{
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                            {
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                            {
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
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                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                        ],
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                            {
                                "id": "206",
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                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:206",
                        "recommended_name": {
                            "id": "DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007586",
                                "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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                            {
                                "id": "DOID:206",
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                            {
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                            {
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007586",
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                            {
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                            {
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            },
            {
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                    {
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                ],
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            {
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    },
                    {
                        "id": "rs139153420",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139153420"
                    },
                    {
                        "id": "rs139153420",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139153420"
                    },
                    {
                        "id": "rs139153420",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs139153420#frequency_tab"
                    },
                    {
                        "id": "rs139153420",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs139153420"
                    },
                    {
                        "id": "rs139153420",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs139153420"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 488,
                "end_pos": 488,
                "subjects_tested": "4484",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "V",
                "sequence_mut": "I",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44197985",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "V488",
                "disease": [
                    {
                        "disease_id": "DOID:1612",
                        "recommended_name": {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "breast cancer",
                            "description": "An organ system cancer that originates in the mammary gland."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
                                "name": "breast tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
                                "name": "malignant neoplasm of breast",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
                                "name": "malignant tumor of the breast",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
                                "name": "mammary cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
                                "name": "mammary tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
                                "name": "primary breast cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "hereditary breast carcinoma",
                                "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, lobular, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial breast cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial breast carcinoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial cancer of breast",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial cancer of the breast",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "hereditary breast cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "hereditary breast carcinoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, familial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, familial Male",
                                "description": ""
                            },
                            {
                                "id": "MIM:114480",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114480",
                                "name": "Breast cancer",
                                "description": "Breast cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3017",
                            "DOID:0050938"
                        ],
                        "evidence": [
                            {
                                "id": "1612",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1612"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:206",
                        "recommended_name": {
                            "id": "DOID:206",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:206",
                            "name": "hereditary multiple exostoses",
                            "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple congenital exostosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                            },
                            {
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                            },
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                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
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                    },
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                            {
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                            {
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                            },
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                            },
                            {
                                "id": "DOID:206",
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                            {
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                            },
                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
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                            },
                            {
                                "id": "MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                            {
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                            },
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                                "id": "MONDO:0007586",
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                            },
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                    {
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                            {
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
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                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
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                                "id": "MIM:133700",
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                                "url": "https://www.omim.org/entry/133700",
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                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
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                        ]
                    },
                    {
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                            "id": "DOID:206",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
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                            },
                            {
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                                "resource": "MIM",
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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": "Disease Ontology",
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                                "description": ""
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
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                            {
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                            {
                                "id": "MONDO:0007585",
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                            {
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
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                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
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                                "url": "https://www.omim.org/entry/133700",
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                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                            },
                            {
                                "id": "206",
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                            }
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                    }
                ],
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            },
            {
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                    {
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                    {
                        "id": "rs1374879447",
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                ],
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                            {
                                "id": "MONDO:0007585",
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                            {
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                            {
                                "id": "MONDO:0007585",
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                            {
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                            {
                                "id": "MONDO:0007586",
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                            {
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                            {
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                                "id": "206",
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                            },
                            {
                                "id": "206",
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                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:206",
                        "recommended_name": {
                            "id": "DOID:206",
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                            "url": "http://disease-ontology.org/term/DOID:206",
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                        },
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                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "name": "Multiple congenital exostosis",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
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                                "description": ""
                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
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                                "resource": "MIM",
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                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
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                            },
                            {
                                "id": "206",
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                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:206",
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                            "id": "DOID:206",
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                            "name": "hereditary multiple exostoses",
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                        },
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "name": "Multiple exostosis syndromes",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
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                            {
                                "id": "206",
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                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1590547374",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1590547374"
                    },
                    {
                        "id": "rs1590547374",
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                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1590547374#frequency_tab"
                    },
                    {
                        "id": "rs1590547374",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1590547374"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 48,
                "end_pos": 48,
                "sequence_org": "H",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107855",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
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                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
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                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                                "id": "206",
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                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
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                        ]
                    }
                ],
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                    "germline",
                    "disease"
                ]
            },
            {
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                    "germline"
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            },
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                ],
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                "chr_pos": "44107854",
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                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1280920729",
                        "database": "dbSNP",
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                    },
                    {
                        "id": "rs1280920729",
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                    },
                    {
                        "id": "rs1280920729",
                        "database": "COSMIC",
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                ],
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                "end_pos": 492,
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                "comment": "Somatic mutation passed 0 out of 0 filters:",
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                    "somatic"
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            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    },
                    {
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                    },
                    {
                        "id": "rs371264133",
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                    },
                    {
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                    {
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                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "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": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
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                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "brain neoplasm, adult",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "malignant brain tumour",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "malignant primary brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "malignant primary brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "malignant tumor of Brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "malignant tumor of adult brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "neoplasm of brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "primary brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "primary brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "primary malignant neoplasm of brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                        ],
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                            "DOID:1659",
                            "DOID:4203",
                            "DOID:368",
                            "DOID:3541",
                            "DOID:4706"
                        ],
                        "evidence": [
                            {
                                "id": "1319",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1319"
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                        ]
                    }
                ],
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            },
            {
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                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
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                ],
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                "sequence_mut": "L",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
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                "chr_pos": "44197998",
                "ref_nt": "A",
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                "keywords": [
                    "ebi",
                    "somatic"
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            },
            {
                "evidence": [
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                        "id": "rs1413488415",
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                    },
                    {
                        "id": "rs1413488415",
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                ],
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                "minor_allelic_frequency": "",
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                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1555016719",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555016719"
                    },
                    {
                        "id": "rs1555016719",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1555016719"
                    }
                ],
                "glycoeffect": [],
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                "end_pos": 493,
                "sequence_org": "N",
                "sequence_mut": "K",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44198002",
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                "minor_allelic_frequency": "",
                "site_lbl": "N493",
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                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1217048286",
                        "database": "dbSNP",
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                    {
                        "id": "rs1217048286",
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                        "url": "https://www.ensembl.org/id/rs1217048286"
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                ],
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                "end_pos": 493,
                "sequence_org": "N",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44198001",
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                "keywords": [
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                    "germline"
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            },
            {
                "evidence": [
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                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
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                ],
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                "sequence_org": "K",
                "sequence_mut": "*",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44198003",
                "ref_nt": "A",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "K494",
                "disease": [
                    {
                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "skin cancer",
                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
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                        "synonyms": [
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "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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                        ]
                    }
                ],
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                    "cancer",
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            },
            {
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                ],
                "glycoeffect": [
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                "start_pos": 494,
                "end_pos": 494,
                "sequence_org": "K",
                "sequence_mut": "E",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44198003",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K494",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs780623640",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780623640"
                    },
                    {
                        "id": "rs780623640",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780623640"
                    },
                    {
                        "id": "rs780623640",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs780623640"
                    }
                ],
                "glycoeffect": [
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                ],
                "start_pos": 494,
                "end_pos": 494,
                "sequence_org": "K",
                "sequence_mut": "N",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44198005",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
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                "keywords": [
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                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    },
                    {
                        "id": "rs1590640131",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1590640131"
                    },
                    {
                        "id": "rs1590640131",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1590640131"
                    }
                ],
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                "subjects_tested": "3601",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "N",
                "sequence_mut": "S",
                "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NKN->NKS).",
                "chr_id": "11",
                "chr_pos": "44198007",
                "ref_nt": "A",
                "alt_nt": "G",
                "minor_allelic_frequency": "",
                "site_lbl": "N495",
                "disease": [
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                        "disease_id": "DOID:9256",
                        "recommended_name": {
                            "id": "DOID:9256",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:9256",
                            "name": "colorectal cancer",
                            "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, advanced, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectum cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumour",
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                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
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                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
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                            },
                            {
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                                "description": ""
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                            {
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                        ]
                    },
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                            },
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                            {
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                            },
                            {
                                "id": "MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
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                                "description": ""
                            },
                            {
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                            },
                            {
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                                "description": ""
                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
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                            },
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                            {
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
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                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
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                        ]
                    }
                ],
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                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
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            },
            {
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                    {
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                "end_pos": 495,
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            },
            {
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                ],
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                "end_pos": 495,
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                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                            {
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                            {
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                                "resource": "MIM",
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                            {
                                "id": "206",
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            {
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                            {
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                            {
                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
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                            {
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                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
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                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
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                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                        ],
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                        "evidence": [
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                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
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                        ]
                    }
                ],
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            },
            {
                "evidence": [
                    {
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                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    },
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 496,
                "end_pos": 496,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "P",
                "sequence_mut": "H",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44198010",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "P496",
                "disease": [
                    {
                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "skin cancer",
                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "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": [
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                                "id": "4159",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs772530256",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772530256"
                    },
                    {
                        "id": "rs772530256",
                        "database": "ExAC",
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                    },
                    {
                        "id": "rs772530256",
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                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs772530256#frequency_tab"
                    },
                    {
                        "id": "rs772530256",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs772530256"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 496,
                "end_pos": 496,
                "sequence_org": "P",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44198010",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P496",
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                        },
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                            {
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                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                            },
                            {
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
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                                "resource": "MONDO",
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                            },
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                                "id": "MONDO:0010846",
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                            },
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                            },
                            {
                                "id": "206",
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                    },
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                            {
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
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                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "description": ""
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                            {
                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
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                            {
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                                "description": ""
                            },
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                                "resource": "MONDO",
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                                "description": ""
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                            {
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
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                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
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                                "id": "206",
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                            },
                            {
                                "id": "206",
                                "database": "AGR",
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                            }
                        ]
                    },
                    {
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                            {
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:206",
                        "recommended_name": {
                            "id": "DOID:206",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:206",
                            "name": "hereditary multiple exostoses",
                            "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple congenital exostosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    },
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 496,
                "end_pos": 496,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "P",
                "sequence_mut": "S",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44198009",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "P496",
                "disease": [
                    {
                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "skin cancer",
                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "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": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1317020965",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1317020965"
                    },
                    {
                        "id": "rs1317020965",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1317020965#frequency_tab"
                    },
                    {
                        "id": "rs1317020965",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1317020965"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 496,
                "end_pos": 496,
                "sequence_org": "P",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44198009",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P496",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    },
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 497,
                "end_pos": 497,
                "subjects_tested": "589",
                "subjects_positive": "1",
                "frequency": "0.2",
                "sequence_org": "P",
                "sequence_mut": "Q",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44198013",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "P497",
                "disease": [
                    {
                        "disease_id": "DOID:2394",
                        "recommended_name": {
                            "id": "DOID:2394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2394",
                            "name": "ovarian cancer",
                            "description": "A female reproductive organ cancer that is located_in the ovary."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "malignant Ovarian tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "tumor of the Ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas."
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of the ovary",
                                "description": ""
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of ovary",
                                "description": ""
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian neoplasm",
                                "description": ""
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of ovary",
                                "description": ""
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovary cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, epithelial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "OVCAS1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MIM:167000",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/167000",
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                    "ebi"
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder cancer",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "tumor of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "tumour of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "bladder cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "cancer of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder neoplasm",
                                "description": ""
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder tumour",
                                "description": ""
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of bladder",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of the bladder",
                                "description": ""
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of the urinary bladder",
                                "description": ""
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of urinary bladder",
                                "description": ""
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm, bladder",
                                "description": ""
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm, urinary bladder",
                                "description": ""
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of bladder",
                                "description": ""
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of urinary bladder",
                                "description": ""
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor, urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of the urinary bladder",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant tumour",
                                "description": ""
                            },
                            {
                                "id": "MIM:109800",
                                "resource": "MIM",
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                                "description": "Bladder cancer"
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                                "url": "https://www.alliancegenome.org/disease/DOID:11054"
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                        ]
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                        "database": "dbSNP",
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                            {
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                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "description": ""
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                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
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                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
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                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                        ],
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                            {
                                "id": "206",
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                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    },
                    {
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
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                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    }
                ],
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                    "germline",
                    "disease"
                ]
            },
            {
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                    },
                    {
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                "end_pos": 49,
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                "minor_allelic_frequency": "",
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            },
            {
                "evidence": [
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                        "id": "",
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                    },
                    {
                        "id": "",
                        "database": "COSMIC",
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                ],
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                "start_pos": 4,
                "end_pos": 4,
                "sequence_org": "S",
                "sequence_mut": "*",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
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                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
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                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
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                    },
                    {
                        "id": "rs527624522",
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                    },
                    {
                        "id": "rs527624522",
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                    },
                    {
                        "id": "rs527624522",
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                    },
                    {
                        "id": "rs527624522",
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                    {
                        "id": "30075207",
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                    },
                    {
                        "id": "rs527624522",
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                ],
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                "sequence_org": "S",
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                            {
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                            {
                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
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                            },
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
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                            {
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                            {
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                            {
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
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                            {
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                            },
                            {
                                "id": "MONDO:0007585",
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                            {
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                            {
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                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
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                            {
                                "id": "MONDO:0007586",
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                            {
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                                "id": "MONDO:0007586",
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                                "resource": "MONDO",
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                            {
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                            {
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                            {
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                            {
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                            {
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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": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                                "id": "206",
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                            },
                            {
                                "id": "206",
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                            }
                        ]
                    },
                    {
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                            "id": "DOID:206",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
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                                "resource": "MONDO",
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                            },
                            {
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                            },
                            {
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                            {
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                                "resource": "MIM",
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                                "description": "Hereditary multiple exostoses 2"
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                            },
                            {
                                "id": "206",
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                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:206",
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                            {
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                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
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                            {
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                            },
                            {
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "name": "multiple ostechondromas",
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                            },
                            {
                                "id": "206",
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                        ]
                    }
                ],
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                    "ebi",
                    "somatic",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs527624522",
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                    },
                    {
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                    },
                    {
                        "id": "rs527624522",
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                    },
                    {
                        "id": "rs527624522",
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                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs527624522#frequency_tab"
                    },
                    {
                        "id": "rs527624522",
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                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs527624522"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 4,
                "end_pos": 4,
                "sequence_org": "S",
                "sequence_mut": "W",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107723",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S4",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1955587849",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1955587849"
                    },
                    {
                        "id": "rs1955587849",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1955587849"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
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                "end_pos": 500,
                "sequence_org": "S",
                "sequence_mut": "C",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44206796",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
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                    {
                        "disease_id": "DOID:206",
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                            "id": "DOID:206",
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                            "url": "http://disease-ontology.org/term/DOID:206",
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                        },
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                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
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                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010846",
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                            {
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                            },
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                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
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                                "description": ""
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007586",
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                            {
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
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                            {
                                "id": "MONDO:0010846",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
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                                "description": "Hereditary multiple exostoses 1"
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                            {
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                                "resource": "MIM",
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                            {
                                "id": "206",
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                        ]
                    }
                ],
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            },
            {
                "evidence": [
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                        "disease_id": "DOID:4159",
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                            "resource": "Disease Ontology",
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                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
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                                "id": "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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                    {
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                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44206795",
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                "alt_nt": "null",
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            },
            {
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                    },
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
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                ],
                "glycoeffect": [],
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                "end_pos": 501,
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                "frequency": "0.0",
                "sequence_org": "L",
                "sequence_mut": "F",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44206798",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "L501",
                "disease": [
                    {
                        "disease_id": "DOID:1612",
                        "recommended_name": {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "breast cancer",
                            "description": "An organ system cancer that originates in the mammary gland."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
                                "name": "breast tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
                                "name": "malignant neoplasm of breast",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
                                "name": "malignant tumor of the breast",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
                                "name": "mammary cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
                                "name": "mammary tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
                                "name": "primary breast cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "hereditary breast carcinoma",
                                "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, lobular, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial breast cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial breast carcinoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial cancer of breast",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial cancer of the breast",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "hereditary breast cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "hereditary breast carcinoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, familial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, familial Male",
                                "description": ""
                            },
                            {
                                "id": "MIM:114480",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114480",
                                "name": "Breast cancer",
                                "description": "Breast cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3017",
                            "DOID:0050938"
                        ],
                        "evidence": [
                            {
                                "id": "1612",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1612"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1346599150",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1346599150"
                    },
                    {
                        "id": "rs1346599150",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1346599150"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 501,
                "end_pos": 501,
                "sequence_org": "L",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44206799",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L501",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs753973135",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753973135"
                    },
                    {
                        "id": "rs753973135",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753973135"
                    },
                    {
                        "id": "rs753973135",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs753973135#frequency_tab"
                    },
                    {
                        "id": "rs753973135",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs753973135"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 502,
                "end_pos": 502,
                "sequence_org": "W",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44206803",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "W502",
                "disease": [
                    {
                        "disease_id": "DOID:206",
                        "recommended_name": {
                            "id": "DOID:206",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:206",
                            "name": "hereditary multiple exostoses",
                            "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple congenital exostosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:206",
                        "recommended_name": {
                            "id": "DOID:206",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:206",
                            "name": "hereditary multiple exostoses",
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                        },
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                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple congenital exostosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
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                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                                "name": "exostoses, multiple, type 3",
                                "description": ""
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                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                            },
                            {
                                "id": "206",
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                        ]
                    },
                    {
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                            "id": "DOID:206",
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                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
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                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
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                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "name": "multiple ostechondromas",
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                                "id": "MONDO:0007585",
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                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            {
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                                "id": "MONDO:0007586",
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                            {
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                                "description": ""
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "id": "MONDO:0007586",
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                                "id": "MONDO:0010846",
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                        },
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
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                            },
                            {
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                            },
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            },
                            {
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                            {
                                "id": "MONDO:0007585",
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                            },
                            {
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                            {
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
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                            {
                                "id": "MONDO:0007586",
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                            },
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                            {
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                            },
                            {
                                "id": "MONDO:0007585",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:206",
                        "recommended_name": {
                            "id": "DOID:206",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:206",
                            "name": "hereditary multiple exostoses",
                            "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple congenital exostosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1955588153",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1955588153"
                    },
                    {
                        "id": "rs1955588153",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1955588153#frequency_tab"
                    },
                    {
                        "id": "rs1955588153",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1955588153"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 505,
                "end_pos": 505,
                "sequence_org": "I",
                "sequence_mut": "V",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44206810",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I505",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    },
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 506,
                "end_pos": 506,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "R",
                "sequence_mut": "L",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44206814",
                "ref_nt": "G",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "R506",
                "disease": [
                    {
                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "skin cancer",
                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "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": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs758812833",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758812833"
                    },
                    {
                        "id": "rs758812833",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758812833"
                    },
                    {
                        "id": "rs758812833",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs758812833#frequency_tab"
                    },
                    {
                        "id": "rs758812833",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs758812833"
                    },
                    {
                        "id": "rs758812833",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs758812833"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 506,
                "end_pos": 506,
                "sequence_org": "R",
                "sequence_mut": "Q",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44206814",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R506",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    },
                    {
                        "id": "rs750549318",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750549318"
                    },
                    {
                        "id": "rs750549318",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750549318"
                    },
                    {
                        "id": "rs750549318",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs750549318#frequency_tab"
                    },
                    {
                        "id": "rs750549318",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs750549318"
                    },
                    {
                        "id": "rs750549318",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs750549318"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 506,
                "end_pos": 506,
                "subjects_tested": "1704",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "R",
                "sequence_mut": "W",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44206813",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "R506",
                "disease": [
                    {
                        "disease_id": "DOID:363",
                        "recommended_name": {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterine cancer",
                            "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"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "skin cancer",
                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "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"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:206",
                        "recommended_name": {
                            "id": "DOID:206",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:206",
                            "name": "hereditary multiple exostoses",
                            "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple congenital exostosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "name": "multiple osteochondromas",
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                            },
                            {
                                "id": "MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
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                                "id": "MONDO:0007586",
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                            {
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                            {
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                            {
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                            {
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                            },
                            {
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                            {
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                            {
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                            {
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                            {
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                                "description": ""
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                            {
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
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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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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
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                            },
                            {
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "name": "exostoses, multiple, type III",
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                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010846",
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                            },
                            {
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                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
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                                "id": "206",
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                        ]
                    },
                    {
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                            },
                            {
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                            },
                            {
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                                "resource": "Disease Ontology",
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                            {
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                            },
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
                            {
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                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
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                            },
                            {
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                            {
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                            },
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                            },
                            {
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                            {
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
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                            },
                            {
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                            },
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                            {
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                            },
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                            {
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                            {
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                            {
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                            },
                            {
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
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                            {
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                            },
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                    },
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                            {
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
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                            },
                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
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                                "id": "MONDO:0007585",
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                            {
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                                "id": "MONDO:0007586",
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                                "id": "MONDO:0007586",
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                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple congenital exostosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
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                            {
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                                "resource": "Disease Ontology",
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                            {
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                            },
                            {
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                            {
                                "id": "MONDO:0007585",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
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                            {
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                            {
                                "id": "MONDO:0007585",
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                            {
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                            {
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                            {
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                            },
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                            },
                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            },
                            {
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                            {
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
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                            {
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                            {
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                                "resource": "MIM",
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                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                            {
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                    {
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            },
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                    {
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            },
            {
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                            {
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                            {
                                "id": "DOID:206",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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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": "DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0010846",
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                            },
                            {
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                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
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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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                                "description": ""
                            },
                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
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                            },
                            {
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                            },
                            {
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                                "resource": "MONDO",
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                            },
                            {
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                            {
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                    },
                    {
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                            {
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                            {
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                            {
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                                "resource": "Disease Ontology",
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    }
                ],
                "keywords": [
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                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs147753803",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147753803"
                    },
                    {
                        "id": "rs147753803",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs147753803"
                    },
                    {
                        "id": "rs147753803",
                        "database": "ExAC",
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                    },
                    {
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                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs147753803#frequency_tab"
                    },
                    {
                        "id": "rs147753803",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs147753803"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 512,
                "end_pos": 512,
                "sequence_org": "V",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44206831",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "0.000588697",
                "site_lbl": "V512",
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                ],
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
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                            {
                                "id": "MONDO:0007586",
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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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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
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                            {
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                            {
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                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
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                                "id": "MONDO:0010846",
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                            {
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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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:0007585",
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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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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                    {
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
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                            },
                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010846",
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                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
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                            },
                            {
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                    }
                ]
            },
            {
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                "end_pos": 513,
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                "chr_id": "11",
                "chr_pos": "44206835",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R513",
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                            {
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                            {
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            {
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                            {
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                                "description": ""
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                            {
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                                "resource": "MONDO",
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                                "description": ""
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                            {
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                                "resource": "MONDO",
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                                "description": ""
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                            {
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
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                            },
                            {
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
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                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
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                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                            },
                            {
                                "id": "206",
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                    }
                ],
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                    "germline",
                    "disease"
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            },
            {
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                    {
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                "end_pos": 513,
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                "glycoeffect": [],
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                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
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                                "resource": "MONDO",
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                                "resource": "MONDO",
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                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "name": "colon cancer, advanced, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectum cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal neoplasm",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumor",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumour",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of colorectum",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large bowel",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large intestine",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large intestine",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large intestine",
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                                "id": "MONDO:0005575",
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                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "id": "MONDO:0005575",
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                                "description": ""
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "name": "multiple ostechondromas",
                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
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                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
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                "evidence": [
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                    "germline"
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            },
            {
                "evidence": [
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                        "database": "dbSNP",
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                    {
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                        "database": "COSMIC",
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                ],
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                "comment": "Somatic mutation passed 0 out of 0 filters:",
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            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
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                    {
                        "id": "",
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                    {
                        "id": "",
                        "database": "COSMIC",
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                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
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                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
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                            "DOID:3149"
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                                "id": "4159",
                                "database": "AGR",
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            {
                "evidence": [
                    {
                        "id": "Q93063",
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                            "resource": "Disease Ontology",
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                                "id": "DOID:11054",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:11054",
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                            {
                                "id": "DOID:11054",
                                "resource": "Disease Ontology",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0001187",
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                            {
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                                "resource": "MONDO",
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                            {
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                                "id": "MONDO:0001187",
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                            {
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                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
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                            {
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                            },
                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                    {
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                            {
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            {
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                            {
                                "id": "MONDO:0007585",
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                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                            {
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                                "id": "MONDO:0007586",
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                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                                "id": "DOID:206",
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                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0010846",
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                            },
                            {
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                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
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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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                                "description": ""
                            },
                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
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                            },
                            {
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                            },
                            {
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                                "resource": "MONDO",
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                            },
                            {
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                            {
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                    },
                    {
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                            {
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                            {
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                            {
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                                "resource": "Disease Ontology",
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                            },
                            {
                                "id": "206",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0007585",
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                            {
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                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                            {
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                                "id": "MONDO:0007586",
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                            {
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                            {
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                            {
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                        "disease_id": "DOID:206",
                        "recommended_name": {
                            "id": "DOID:206",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:206",
                            "name": "hereditary multiple exostoses",
                            "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple congenital exostosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    },
                    {
                        "id": "rs1955589502",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1955589502"
                    },
                    {
                        "id": "rs1955589502",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1955589502"
                    },
                    {
                        "id": "rs1955589502",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1955589502"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 525,
                "end_pos": 525,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "P",
                "sequence_mut": "S",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44206870",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "P525",
                "disease": [
                    {
                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "skin cancer",
                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "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": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2135204843",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2135204843"
                    },
                    {
                        "id": "rs2135204843",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2135204843"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 526,
                "end_pos": 526,
                "sequence_org": "Y",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44206874",
                "ref_nt": "p",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y526",
                "disease": [
                    {
                        "disease_id": "DOID:206",
                        "recommended_name": {
                            "id": "DOID:206",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:206",
                            "name": "hereditary multiple exostoses",
                            "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple congenital exostosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:206",
                        "recommended_name": {
                            "id": "DOID:206",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:206",
                            "name": "hereditary multiple exostoses",
                            "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple congenital exostosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    },
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 526,
                "end_pos": 526,
                "subjects_tested": "719",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "Y",
                "sequence_mut": "C",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44206874",
                "ref_nt": "A",
                "alt_nt": "G",
                "minor_allelic_frequency": "",
                "site_lbl": "Y526",
                "disease": [
                    {
                        "disease_id": "DOID:11934",
                        "recommended_name": {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "head and neck cancer",
                            "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:11934",
                                "name": "head and neck neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:11934",
                                "name": "head and neck tumours",
                                "description": ""
                            },
                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:11934",
                                "name": "head/neck neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:11934",
                                "name": "tumor of head and neck",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:1542"
                        ],
                        "evidence": [
                            {
                                "id": "11934",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:11934"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 527,
                "end_pos": 527,
                "subjects_tested": "1557",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "D",
                "sequence_mut": "E",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44206878",
                "ref_nt": "T",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "D527",
                "disease": [
                    {
                        "disease_id": "DOID:263",
                        "recommended_name": {
                            "id": "DOID:263",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:263",
                            "name": "kidney cancer",
                            "description": "A urinary system cancer that is located_in the kidney."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:263",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:263",
                                "name": "malignant neoplasm of kidney except pelvis",
                                "description": ""
                            },
                            {
                                "id": "DOID:263",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:263",
                                "name": "malignant tumour of kidney",
                                "description": ""
                            },
                            {
                                "id": "DOID:263",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:263",
                                "name": "renal cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:4455",
                            "DOID:3675"
                        ],
                        "evidence": [
                            {
                                "id": "263",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:263"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2135204865",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2135204865"
                    },
                    {
                        "id": "rs2135204865",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2135204865"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 527,
                "end_pos": 527,
                "sequence_org": "D",
                "sequence_mut": "H",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44206876",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "D527",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    },
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 527,
                "end_pos": 527,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "D",
                "sequence_mut": "N",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44206876",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "D527",
                "disease": [
                    {
                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "skin cancer",
                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "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": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs761890554",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761890554"
                    },
                    {
                        "id": "rs761890554",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761890554"
                    },
                    {
                        "id": "rs761890554",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs761890554#frequency_tab"
                    },
                    {
                        "id": "rs761890554",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs761890554"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 528,
                "end_pos": 528,
                "sequence_org": "E",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44206879",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E528",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs761890554",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761890554"
                    },
                    {
                        "id": "rs761890554",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761890554"
                    },
                    {
                        "id": "rs761890554",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs761890554#frequency_tab"
                    },
                    {
                        "id": "rs761890554",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs761890554"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 528,
                "end_pos": 528,
                "sequence_org": "E",
                "sequence_mut": "K",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44206879",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E528",
                "disease": [
                    {
                        "disease_id": "DOID:206",
                        "recommended_name": {
                            "id": "DOID:206",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:206",
                            "name": "hereditary multiple exostoses",
                            "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple congenital exostosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            },
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010846",
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                            },
                            {
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                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
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                            },
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                            {
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                            {
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                            },
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                                "id": "DOID:206",
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                            },
                            {
                                "id": "DOID:206",
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                                "description": ""
                            },
                            {
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                            },
                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                            {
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                            },
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                                "id": "MONDO:0007586",
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                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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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:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            },
                            {
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                                "resource": "MONDO",
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                            {
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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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": "MIM",
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                            },
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                    },
                    {
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                            {
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:206",
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                                "name": "hereditary multiple exostoses 3",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
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                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
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                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
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                                "id": "MIM:133700",
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                                "url": "https://www.omim.org/entry/133700",
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                                "description": "Hereditary multiple exostoses 1"
                            },
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                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                            },
                            {
                                "id": "206",
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                    }
                ],
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                    "germline",
                    "disease"
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            },
            {
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            {
                "evidence": [
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            {
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                            {
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                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of the large bowel",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, advanced, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, somatic",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, autosomal dominant, somatic mutation",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, somatic",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal neoplasm",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumour",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine neoplasm",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumor",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumour",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of colorectum",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large bowel",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large intestine",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large bowel",
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                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large intestine",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "name": "malignant tumour of large bowel",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "id": "MONDO:0005575",
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            },
            {
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0010846",
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                            },
                            {
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                            },
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                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
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                            },
                            {
                                "id": "206",
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                    },
                    {
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                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
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                            {
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                            {
                                "id": "DOID:206",
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                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
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                                "description": ""
                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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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": "Disease Ontology",
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                            {
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                            {
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                            {
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                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                        ],
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                            },
                            {
                                "id": "206",
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                        ]
                    },
                    {
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                            "id": "DOID:206",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
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                                "id": "DOID:206",
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                                "id": "DOID:206",
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                            {
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
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                            },
                            {
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                            {
                                "id": "MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            {
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                            },
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                            },
                            {
                                "id": "206",
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                ],
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            },
            {
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                        "id": "",
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                    },
                    {
                        "id": "",
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            {
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                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
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                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
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                            },
                            {
                                "id": "206",
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                    }
                ],
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            },
            {
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                ],
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            },
            {
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                        "id": "rs2135204968",
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                ],
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                "end_pos": 533,
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                "chr_pos": "44206895",
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                    "germline"
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            },
            {
                "evidence": [
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                    {
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                ],
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            },
            {
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                ],
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                            {
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                            {
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                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
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                            {
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                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
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                                "resource": "MONDO",
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                                "id": "MONDO:0010846",
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                            {
                                "id": "DOID:206",
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                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
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                                "id": "MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
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                                "resource": "MONDO",
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                            {
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                            {
                                "id": "MONDO:0007586",
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                            {
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                            {
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                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
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                                "id": "MONDO:0010846",
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                            {
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                            {
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                            {
                                "id": "MONDO:0007585",
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                            {
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                            {
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                            {
                                "id": "MONDO:0007585",
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                            {
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                            {
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0007586",
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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": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007586",
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                                "id": "MONDO:0010846",
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
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                                "id": "MIM:133700",
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                                "url": "https://www.omim.org/entry/133700",
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                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
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                            {
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                            {
                                "id": "DOID:1612",
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                            {
                                "id": "DOID:1612",
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                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "hereditary breast carcinoma",
                                "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, lobular, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "name": "breast cancer, somatic",
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
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                            {
                                "id": "MONDO:0016419",
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0016419",
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                            {
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                            {
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
                                "name": "mammary cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
                                "name": "mammary tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
                                "name": "primary breast cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "hereditary breast carcinoma",
                                "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, lobular, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial breast cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial breast carcinoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial cancer of breast",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial cancer of the breast",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "hereditary breast cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "hereditary breast carcinoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, familial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, familial Male",
                                "description": ""
                            },
                            {
                                "id": "MIM:114480",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114480",
                                "name": "Breast cancer",
                                "description": "Breast cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3017",
                            "DOID:0050938"
                        ],
                        "evidence": [
                            {
                                "id": "1612",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1612"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs768151665",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768151665"
                    },
                    {
                        "id": "rs768151665",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768151665"
                    },
                    {
                        "id": "rs768151665",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs768151665"
                    }
                ],
                "glycoeffect": [],
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                "end_pos": 542,
                "sequence_org": "I",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44206921",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I542",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1955590627",
                        "database": "dbSNP",
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                    },
                    {
                        "id": "rs1955590627",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1955590627"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 543,
                "end_pos": 543,
                "sequence_org": "M",
                "sequence_mut": "I",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44206926",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "M543",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1590647371",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1590647371"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 543,
                "end_pos": 543,
                "sequence_org": "M",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44206924",
                "ref_nt": "p",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "M543",
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                    {
                        "disease_id": "DOID:206",
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                            "id": "DOID:206",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:206",
                            "name": "hereditary multiple exostoses",
                            "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth."
                        },
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple congenital exostosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2135205174",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2135205174"
                    },
                    {
                        "id": "rs2135205174",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2135205174"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 545,
                "end_pos": 545,
                "sequence_org": "T",
                "sequence_mut": "I",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44206931",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "T545",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2135205174",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2135205174"
                    },
                    {
                        "id": "rs2135205174",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2135205174"
                    }
                ],
                "glycoeffect": [
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                ],
                "start_pos": 545,
                "end_pos": 545,
                "sequence_org": "T",
                "sequence_mut": "N",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44206931",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "T545",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2135205157",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2135205157"
                    },
                    {
                        "id": "rs2135205157",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2135205157"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 545,
                "end_pos": 545,
                "sequence_org": "T",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44206930",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "T545",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    },
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 547,
                "end_pos": 547,
                "subjects_tested": "4484",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "D",
                "sequence_mut": "E",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44206938",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "D547",
                "disease": [
                    {
                        "disease_id": "DOID:1612",
                        "recommended_name": {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "breast cancer",
                            "description": "An organ system cancer that originates in the mammary gland."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
                                "name": "breast tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
                                "name": "malignant neoplasm of breast",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
                                "name": "malignant tumor of the breast",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
                                "name": "mammary cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
                                "name": "mammary tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
                                "name": "primary breast cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "hereditary breast carcinoma",
                                "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, lobular, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "name": "breast cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, somatic",
                                "description": ""
                            },
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                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
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                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial breast cancer",
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                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "resource": "MONDO",
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                                "resource": "MONDO",
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                                "name": "familial cancer of the breast",
                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "hereditary breast carcinoma",
                                "description": ""
                            },
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                                "resource": "MONDO",
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                                "description": ""
                            },
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                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, familial Male",
                                "description": ""
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                            {
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                            {
                                "id": "MONDO:0005575",
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                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
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                            {
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                                "id": "MONDO:0005575",
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                                "id": "MONDO:0005575",
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                                "id": "MONDO:0005575",
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                                "id": "MONDO:0005575",
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                                "id": "MONDO:0005575",
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                            {
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                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
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                                "resource": "MONDO",
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                                "resource": "MONDO",
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                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
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                                "description": ""
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                                "name": "multiple cartilaginous exostoses",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
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                            },
                            {
                                "id": "MONDO:0010846",
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                            {
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                            },
                            {
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                                "description": ""
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            },
                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
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                            {
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                            {
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                            {
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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": "Disease Ontology",
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                            {
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                            {
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
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                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
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                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                "end_pos": 549,
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                            {
                                "id": "MONDO:0008903",
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                            {
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
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                                "resource": "MONDO",
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                                "resource": "MONDO",
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                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
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                                "description": ""
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                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
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                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 552,
                "end_pos": 552,
                "sequence_org": "G",
                "sequence_mut": "F",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000011.10",
                "chr_pos": "44206951-44206952",
                "ref_nt": "GG",
                "alt_nt": "TT",
                "minor_allelic_frequency": "",
                "site_lbl": "G552",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 552,
                "end_pos": 552,
                "sequence_org": "G",
                "sequence_mut": "S",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000011.10",
                "chr_pos": "44206951",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "G552",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    },
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 552,
                "end_pos": 552,
                "subjects_tested": "4799",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "G",
                "sequence_mut": "V",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44206952",
                "ref_nt": "G",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "G552",
                "disease": [
                    {
                        "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": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "Nonsmall cell lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "alveolar cell carcinoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "LNCR1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "LNCR3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "adenocarcinoma of lung, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "LNCR4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "LNCR5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:4765"
                        ],
                        "evidence": [
                            {
                                "id": "1324",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1324"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "skin cancer",
                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "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": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1327752383",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1327752383"
                    },
                    {
                        "id": "rs1327752383",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1327752383#frequency_tab"
                    },
                    {
                        "id": "rs1327752383",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1327752383"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 553,
                "end_pos": 553,
                "sequence_org": "Y",
                "sequence_mut": "D",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44206954",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y553",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1319807150",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1319807150"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 554,
                "end_pos": 554,
                "sequence_org": "E",
                "sequence_mut": "D",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44206959",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E554",
                "disease": [
                    {
                        "disease_id": "DOID:206",
                        "recommended_name": {
                            "id": "DOID:206",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:206",
                            "name": "hereditary multiple exostoses",
                            "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple congenital exostosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                        ],
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                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    }
                ],
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                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs746782566",
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                    },
                    {
                        "id": "rs746782566",
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                    },
                    {
                        "id": "rs746782566",
                        "database": "gnomAD",
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                    }
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                "end_pos": 555,
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                    "ebi",
                    "germline"
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            },
            {
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                    {
                        "id": "rs746782566",
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                    },
                    {
                        "id": "rs746782566",
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                ],
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                "minor_allelic_frequency": "",
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                    "ebi",
                    "germline"
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            },
            {
                "evidence": [
                    {
                        "id": "rs1350266566",
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                ],
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                "end_pos": 556,
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                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44232358",
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                    {
                        "disease_id": "DOID:206",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
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                            {
                                "id": "MONDO:0010846",
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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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                    "germline"
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            },
            {
                "evidence": [
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                        "id": "rs1282578910",
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                    {
                        "id": "rs1282578910",
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                    {
                        "id": "rs1282578910",
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                "end_pos": 557,
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                "chr_pos": "44232360",
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            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
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                    {
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                    {
                        "id": "rs768532662",
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                    {
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                    {
                        "id": "rs768532662",
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                    {
                        "id": "rs768532662",
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                ],
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                "frequency": "0.0",
                "sequence_org": "R",
                "sequence_mut": "W",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
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                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "R557",
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                        "disease_id": "DOID:1793",
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                            "url": "http://disease-ontology.org/term/DOID:1793",
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                        "synonyms": [
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                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
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                                "description": ""
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                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
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                            {
                                "id": "DOID:1793",
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                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "malignant neoplasm of tail of pancreas",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "pancreas neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "pancreatic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "pancreatic tumor",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
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                        "evidence": [
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                                "id": "1793",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1793"
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                        ]
                    },
                    {
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                            "id": "DOID:206",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:206",
                            "name": "hereditary multiple exostoses",
                            "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth."
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                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            {
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                            {
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                            },
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            },
                            {
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                            },
                            {
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                            {
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                            {
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                                "resource": "MONDO",
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                            },
                            {
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                            {
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                            {
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                            },
                            {
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:206",
                        "recommended_name": {
                            "id": "DOID:206",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:206",
                            "name": "hereditary multiple exostoses",
                            "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple congenital exostosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs925428117",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs925428117"
                    },
                    {
                        "id": "rs925428117",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs925428117"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 559,
                "end_pos": 559,
                "sequence_org": "F",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44232367",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "F559",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    },
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 560,
                "end_pos": 560,
                "subjects_tested": "720",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "P",
                "sequence_mut": "L",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44232369",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "P560",
                "disease": [
                    {
                        "disease_id": "DOID:10534",
                        "recommended_name": {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "name": "stomach cancer",
                            "description": "A gastrointestinal system cancer that is located_in the stomach."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:10534",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10534",
                                "name": "gastric cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:10534",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10534",
                                "name": "gastric neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the stomach."
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "Ca lesser curvature - stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "GC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "cancer of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer risk after h. pylori infection",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant gastric neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant gastric tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant gastric tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of lesser curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of the stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant stomach neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of body of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of greater curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of lesser curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of the stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of body of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of greater curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of lesser curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of the stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "stomach cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "Ca body - stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "ca greater curvature of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of body of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer, intestinal",
                                "description": ""
                            },
                            {
                                "id": "MIM:613659",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/613659",
                                "name": "Gastric cancer",
                                "description": "Gastric cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "10534",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:10534"
                            },
                            {
                                "id": "10534",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:10534"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    },
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 560,
                "end_pos": 560,
                "subjects_tested": "1704",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "P",
                "sequence_mut": "S",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44232368",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "P560",
                "disease": [
                    {
                        "disease_id": "DOID:363",
                        "recommended_name": {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterine cancer",
                            "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",
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                            }
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010846",
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
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                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                            },
                            {
                                "id": "206",
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                        ]
                    },
                    {
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                            {
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                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "description": ""
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
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                            {
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                            },
                            {
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                            },
                            {
                                "id": "206",
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                    }
                ],
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            },
            {
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                "end_pos": 561,
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            {
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                ],
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            },
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                            },
                            {
                                "id": "MONDO:0010846",
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                            },
                            {
                                "id": "MONDO:0010846",
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                            },
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                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
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                                "resource": "MIM",
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                            {
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                            },
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                            {
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
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                            {
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                            {
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                            },
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                                "resource": "MONDO",
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                            {
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                            {
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                            {
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                            {
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                            {
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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:0007586",
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                            {
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                            {
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                            {
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                            {
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                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0010846",
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                            },
                            {
                                "id": "MONDO:0010846",
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                            },
                            {
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                                "resource": "MIM",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                                "id": "MONDO:0007586",
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            },
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                            },
                            {
                                "id": "MONDO:0010846",
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                            },
                            {
                                "id": "MONDO:0010846",
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                            },
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                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
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                                "resource": "MIM",
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                            {
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                            },
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                            {
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
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                            {
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                            {
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                            },
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                                "resource": "MONDO",
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                            {
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                            {
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                            {
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                            {
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                            {
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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:0007586",
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                            {
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                            {
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                            {
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                            {
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                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            {
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                            },
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                                "id": "MONDO:0010846",
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                            },
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                            },
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                                "resource": "MIM",
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                            },
                            {
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                        ]
                    },
                    {
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                            },
                            {
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
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                            {
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                                "id": "DOID:206",
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                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
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                            },
                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007585",
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                            },
                            {
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                                "description": ""
                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            },
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "description": ""
                            },
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                            {
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                            },
                            {
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                            },
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                            },
                            {
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                            }
                        ]
                    }
                ]
            },
            {
                "evidence": [
                    {
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                    },
                    {
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                    {
                        "id": "rs749343014",
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                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs749343014"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 562,
                "end_pos": 562,
                "sequence_org": "R",
                "sequence_mut": "W",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44232374",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R562",
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                            {
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                            {
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                                "resource": "Disease Ontology",
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                            {
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                            {
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                            {
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                            {
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                                "resource": "Disease Ontology",
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                            {
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                            },
                            {
                                "id": "206",
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                        ]
                    },
                    {
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
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                                "resource": "Disease Ontology",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            },
                            {
                                "id": "MONDO:0007585",
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                            {
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                            {
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                            },
                            {
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            {
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                            {
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                            {
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                            {
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                    {
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                            {
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                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                            {
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            },
            {
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                    {
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                    "germline"
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            },
            {
                "evidence": [
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                    {
                        "id": "rs1731892783",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1731892783"
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                ],
                "glycoeffect": [],
                "start_pos": 564,
                "end_pos": 564,
                "sequence_org": "V",
                "sequence_mut": "A",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44232381",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V564",
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                    "ebi",
                    "germline"
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            },
            {
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                        "id": "rs774746844",
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                    {
                        "id": "rs774746844",
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                    {
                        "id": "rs774746844",
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                ],
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                "end_pos": 564,
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                "chr_pos": "44232380",
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            },
            {
                "evidence": [
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                        "id": "rs759881903",
                        "database": "dbSNP",
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                    {
                        "id": "rs759881903",
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                    {
                        "id": "rs759881903",
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                ],
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                "sequence_org": "G",
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                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44232383",
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            },
            {
                "evidence": [
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                        "id": "rs772405998",
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                    {
                        "id": "rs772405998",
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                    {
                        "id": "rs772405998",
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                "end_pos": 565,
                "sequence_org": "G",
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                "site_lbl": "G565",
                "keywords": [
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                    "germline"
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            },
            {
                "evidence": [
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                        "id": "rs2135259503",
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                "end_pos": 566,
                "sequence_org": "Y",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44232388",
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                "alt_nt": "null",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
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                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            }
        ]
    }
}
