{
    "batchid": 5,
    "recordid": "Q93063-1",
    "recordtype": "protein",
    "sections": {
        "snv": [
            {
                "evidence": [
                    {
                        "id": "rs2539568887",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2539568887"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 348,
                "end_pos": 348,
                "sequence_org": "Y",
                "sequence_mut": "D",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44126918",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y348",
                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "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": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 348,
                "end_pos": 348,
                "sequence_org": "Y",
                "sequence_mut": "F",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000011.10",
                "chr_pos": "44126919",
                "ref_nt": "A",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "Y348",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1482081427",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1482081427"
                    },
                    {
                        "id": "rs1482081427",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1482081427"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 349,
                "end_pos": 349,
                "sequence_org": "I",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44126921",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I349",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2134965539",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134965539"
                    },
                    {
                        "id": "rs2134965539",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2134965539"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 34,
                "end_pos": 34,
                "sequence_org": "L",
                "sequence_mut": "F",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107812",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L34",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs747302075",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747302075"
                    },
                    {
                        "id": "rs747302075",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747302075"
                    },
                    {
                        "id": "rs747302075",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs747302075"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 350,
                "end_pos": 350,
                "sequence_org": "L",
                "sequence_mut": "F",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44126926",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L350",
                "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"
                            }
                        ]
                    },
                    {
                        "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": "rs376319387",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376319387"
                    },
                    {
                        "id": "rs376319387",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376319387"
                    },
                    {
                        "id": "rs376319387",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs376319387#frequency_tab"
                    },
                    {
                        "id": "rs376319387",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs376319387"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 350,
                "end_pos": 350,
                "sequence_org": "L",
                "sequence_mut": "W",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44126925",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L350",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1954415893",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954415893"
                    },
                    {
                        "id": "rs1954415893",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1954415893#frequency_tab"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 351,
                "end_pos": 351,
                "sequence_org": "P",
                "sequence_mut": "A",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44126927",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P351",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 351,
                "end_pos": 351,
                "subjects_tested": "1704",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "P",
                "sequence_mut": "H",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44126928",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "P351",
                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1954415964",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954415964"
                    },
                    {
                        "id": "rs1954415964",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1954415964"
                    },
                    {
                        "id": "30806661",
                        "database": "PubMed",
                        "url": "https://glygen.org/publication/PubMed/30806661"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 351,
                "end_pos": 351,
                "sequence_org": "P",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44126928",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P351",
                "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"
                            }
                        ]
                    },
                    {
                        "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": "rs1954415893",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954415893"
                    },
                    {
                        "id": "rs1954415893",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1954415893#frequency_tab"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 351,
                "end_pos": 351,
                "sequence_org": "P",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44126927",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P351",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs150255775",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150255775"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 352,
                "end_pos": 352,
                "sequence_org": "F",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44126932",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "F352",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1954416096",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954416096"
                    },
                    {
                        "id": "rs1954416096",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1954416096#frequency_tab"
                    },
                    {
                        "id": "rs1954416096",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1954416096"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 352,
                "end_pos": 352,
                "sequence_org": "F",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44126931",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "F352",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2539568993",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2539568993"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 354,
                "end_pos": 354,
                "sequence_org": "E",
                "sequence_mut": "D",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44126938",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E354",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 354,
                "end_pos": 354,
                "subjects_tested": "606",
                "subjects_positive": "1",
                "frequency": "0.2",
                "sequence_org": "E",
                "sequence_mut": "K",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44126936",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "E354",
                "disease": [
                    {
                        "disease_id": "DOID:1781",
                        "recommended_name": {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "thyroid cancer",
                            "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:1781",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1781",
                                "name": "Thyroid gland neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1781",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1781",
                                "name": "malignant neoplasm of thyroid gland",
                                "description": ""
                            },
                            {
                                "id": "DOID:1781",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1781",
                                "name": "malignant tumour of thyroid gland",
                                "description": ""
                            },
                            {
                                "id": "DOID:1781",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1781",
                                "name": "neoplasm of thyroid gland",
                                "description": ""
                            },
                            {
                                "id": "DOID:1781",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1781",
                                "name": "thyroid neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1781",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1781",
                                "name": "thyroid gland cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:0080524",
                            "DOID:0080525",
                            "DOID:3973"
                        ],
                        "evidence": [
                            {
                                "id": "1781",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1781"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs574960814",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs574960814"
                    },
                    {
                        "id": "rs574960814",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs574960814"
                    },
                    {
                        "id": "rs574960814",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs574960814"
                    },
                    {
                        "id": "rs574960814",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs574960814"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 356,
                "end_pos": 356,
                "sequence_org": "L",
                "sequence_mut": "F",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44126942",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "0.000196232",
                "site_lbl": "L356",
                "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"
                            }
                        ]
                    },
                    {
                        "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"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 356,
                "end_pos": 356,
                "subjects_tested": "2670",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "L",
                "sequence_mut": "I",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44126942",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "L356",
                "disease": [
                    {
                        "disease_id": "DOID:1319",
                        "recommended_name": {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "brain cancer",
                            "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "BT - Brain tumour",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "adult brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "adult malignant brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "brain neoplasm",
                                "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",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "tumor of the Brain",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:1659",
                            "DOID:4203",
                            "DOID:368",
                            "DOID:3541",
                            "DOID:4706"
                        ],
                        "evidence": [
                            {
                                "id": "1319",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1319"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "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": 357,
                "end_pos": 357,
                "sequence_org": "D",
                "sequence_mut": "G",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000011.10",
                "chr_pos": "44126946",
                "ref_nt": "A",
                "alt_nt": "G",
                "minor_allelic_frequency": "",
                "site_lbl": "D357",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1478942577",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1478942577"
                    },
                    {
                        "id": "rs1478942577",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1478942577"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 357,
                "end_pos": 357,
                "sequence_org": "D",
                "sequence_mut": "N",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44126945",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "D357",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1478942577",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1478942577"
                    },
                    {
                        "id": "rs1478942577",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1478942577"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 357,
                "end_pos": 357,
                "sequence_org": "D",
                "sequence_mut": "Y",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44126945",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "D357",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1375612039",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1375612039"
                    },
                    {
                        "id": "rs1375612039",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1375612039"
                    },
                    {
                        "id": "rs1450980907",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1450980907"
                    },
                    {
                        "id": "rs1450980907",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1450980907"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 358,
                "end_pos": 358,
                "sequence_org": "W",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44126949",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "W358",
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "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"
                            }
                        ]
                    }
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1450980907",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1450980907"
                    },
                    {
                        "id": "rs1450980907",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1450980907"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 358,
                "end_pos": 358,
                "sequence_org": "W",
                "sequence_mut": "C",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44126950",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "W358",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2135020999",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2135020999"
                    },
                    {
                        "id": "rs2135020999",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2135020999"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 358,
                "end_pos": 358,
                "sequence_org": "W",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44126948",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "W358",
                "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": "rs2135020999",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2135020999"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 358,
                "end_pos": 358,
                "sequence_org": "W",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44126948",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "W358",
                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1204851132",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1204851132"
                    },
                    {
                        "id": "rs1204851132",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1204851132"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 359,
                "end_pos": 359,
                "sequence_org": "K",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44126952",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K359",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 35,
                "end_pos": 35,
                "subjects_tested": "2617",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "L",
                "sequence_mut": "M",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44107815",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "L35",
                "disease": [
                    {
                        "disease_id": "DOID:1793",
                        "recommended_name": {
                            "id": "DOID:1793",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1793",
                            "name": "pancreatic cancer",
                            "description": "An endocrine gland cancer located_in the pancreas."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "Ca body of pancreas",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "Ca head of pancreas",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "Ca tail of pancreas",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "malignant neoplasm of body of pancreas",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "malignant neoplasm of head of pancreas",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "malignant neoplasm of tail of pancreas",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "pancreas neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "pancreatic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "pancreatic tumor",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:1795"
                        ],
                        "evidence": [
                            {
                                "id": "1793",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1793"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1404043321",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1404043321"
                    },
                    {
                        "id": "rs1404043321",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1404043321#frequency_tab"
                    },
                    {
                        "id": "rs1404043321",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1404043321"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 361,
                "end_pos": 361,
                "sequence_org": "A",
                "sequence_mut": "P",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130046",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A361",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "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": 361,
                "end_pos": 361,
                "sequence_org": "A",
                "sequence_mut": "T",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000011.10",
                "chr_pos": "44130046",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "A361",
                "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": 361,
                "end_pos": 361,
                "subjects_tested": "719",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "A",
                "sequence_mut": "V",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44130047",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "A361",
                "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": "rs2539577219",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2539577219"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 362,
                "end_pos": 362,
                "sequence_org": "S",
                "sequence_mut": "F",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130050",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S362",
                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs138943091",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138943091"
                    },
                    {
                        "id": "rs138943091",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs138943091"
                    },
                    {
                        "id": "rs138943091",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138943091"
                    },
                    {
                        "id": "rs138943091",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs138943091#frequency_tab"
                    },
                    {
                        "id": "rs138943091",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs138943091"
                    },
                    {
                        "id": "rs138943091",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs138943091"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 363,
                "end_pos": 363,
                "sequence_org": "V",
                "sequence_mut": "M",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130052",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V363",
                "keywords": [
                    "ebi",
                    "somatic",
                    "disease"
                ],
                "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    }
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1954469045",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954469045"
                    },
                    {
                        "id": "rs1954469045",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1954469045"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 364,
                "end_pos": 364,
                "sequence_org": "V",
                "sequence_mut": "I",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130055",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V364",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2135029065",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2135029065"
                    },
                    {
                        "id": "rs2135029065",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2135029065"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 365,
                "end_pos": 365,
                "sequence_org": "V",
                "sequence_mut": "I",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130058",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V365",
                "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": 366,
                "end_pos": 366,
                "subjects_tested": "1704",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "P",
                "sequence_mut": "A",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44130061",
                "ref_nt": "C",
                "alt_nt": "G",
                "minor_allelic_frequency": "",
                "site_lbl": "P366",
                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "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": 366,
                "end_pos": 366,
                "sequence_org": "P",
                "sequence_mut": "Q",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000011.10",
                "chr_pos": "44130062",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "P366",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1954469177",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954469177"
                    },
                    {
                        "id": "rs1954469177",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1954469177#frequency_tab"
                    },
                    {
                        "id": "rs1954469177",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1954469177"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 367,
                "end_pos": 367,
                "sequence_org": "E",
                "sequence_mut": "D",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130066",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E367",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1590575116",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1590575116"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 368,
                "end_pos": 368,
                "sequence_org": "E",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130067",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E368",
                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2539577315",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2539577315"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 368,
                "end_pos": 368,
                "sequence_org": "E",
                "sequence_mut": "D",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130069_44130073",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E368",
                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1590575116",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1590575116"
                    },
                    {
                        "id": "rs1590575116",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1590575116"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 368,
                "end_pos": 368,
                "sequence_org": "E",
                "sequence_mut": "K",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130067",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E368",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1954469318",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954469318"
                    },
                    {
                        "id": "rs1954469318",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1954469318"
                    },
                    {
                        "id": "rs1954469318",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1954469318"
                    }
                ],
                "glycoeffect": [
                    "n-glyco-sequon-gain",
                    "o-glyco-site-loss"
                ],
                "start_pos": 369,
                "end_pos": 369,
                "sequence_org": "K",
                "sequence_mut": "N",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130072",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K369",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2135029085",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2135029085"
                    },
                    {
                        "id": "rs2135029085",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2135029085"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 369,
                "end_pos": 369,
                "sequence_org": "K",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130071",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K369",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2134965568",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134965568"
                    },
                    {
                        "id": "rs2134965568",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2134965568"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 36,
                "end_pos": 36,
                "sequence_org": "G",
                "sequence_mut": "A",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107819",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "G36",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1954078217",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954078217"
                    },
                    {
                        "id": "rs1954078217",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1954078217#frequency_tab"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 36,
                "end_pos": 36,
                "sequence_org": "G",
                "sequence_mut": "C",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107818",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "G36",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1954078217",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954078217"
                    },
                    {
                        "id": "rs1954078217",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1954078217#frequency_tab"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 36,
                "end_pos": 36,
                "sequence_org": "G",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107818",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "G36",
                "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": 36,
                "end_pos": 36,
                "subjects_tested": "1773",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "G",
                "sequence_mut": "S",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44107818",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "G36",
                "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": "rs34084767",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs34084767"
                    },
                    {
                        "id": "rs34084767",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs34084767"
                    },
                    {
                        "id": "rs34084767",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs34084767"
                    },
                    {
                        "id": "rs34084767",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs34084767#frequency_tab"
                    },
                    {
                        "id": "rs34084767",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs34084767"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 370,
                "end_pos": 370,
                "sequence_org": "M",
                "sequence_mut": "I",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130075",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "M370",
                "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs199711832",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199711832"
                    },
                    {
                        "id": "rs199711832",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs199711832#frequency_tab"
                    },
                    {
                        "id": "rs199711832",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs199711832"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 370,
                "end_pos": 370,
                "sequence_org": "M",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130074",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "M370",
                "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"
                            }
                        ]
                    },
                    {
                        "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": "rs1474996774",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1474996774"
                    },
                    {
                        "id": "rs1474996774",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1474996774#frequency_tab"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 371,
                "end_pos": 371,
                "sequence_org": "S",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130077",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S371",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "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": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 371,
                "end_pos": 371,
                "sequence_org": "S",
                "sequence_mut": "P",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000011.10",
                "chr_pos": "44130076",
                "ref_nt": "T",
                "alt_nt": "C",
                "minor_allelic_frequency": "",
                "site_lbl": "S371",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1373547270",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1373547270"
                    },
                    {
                        "id": "rs1373547270",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1373547270"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 373,
                "end_pos": 373,
                "sequence_org": "V",
                "sequence_mut": "A",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130083",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V373",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs750547674",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750547674"
                    },
                    {
                        "id": "rs750547674",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750547674"
                    },
                    {
                        "id": "rs750547674",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs750547674"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 373,
                "end_pos": 373,
                "sequence_org": "V",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130082",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V373",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    },
                    {
                        "id": "rs750547674",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750547674"
                    },
                    {
                        "id": "rs750547674",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750547674"
                    },
                    {
                        "id": "rs750547674",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs750547674"
                    },
                    {
                        "id": "rs750547674",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs750547674"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 373,
                "end_pos": 373,
                "subjects_tested": "4177",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "V",
                "sequence_mut": "M",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44130082",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "V373",
                "disease": [
                    {
                        "disease_id": "DOID:10283",
                        "recommended_name": {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "prostate cancer",
                            "description": "A male reproductive organ cancer that is located_in the prostate."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10283",
                                "name": "NGP - new growth of prostate",
                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10283",
                                "name": "hereditary prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10283",
                                "name": "malignant tumor of the prostate",
                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10283",
                                "name": "prostate cancer, familial",
                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10283",
                                "name": "prostate neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10283",
                                "name": "prostatic cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10283",
                                "name": "prostatic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10283",
                                "name": "tumor of the prostate",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                                "name": "prostate cancer, hereditary, X-linked 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                                "name": "HPCX1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                                "name": "prostate cancer, hereditary, X-linked 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                                "name": "prostate cancer susceptibility, X-linked",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010405",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                                "name": "prostate cancer, hereditary, X-linked 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010405",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                                "name": "HPCX2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010405",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                                "name": "prostate cancer, hereditary, X-linked 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "prostate cancer, hereditary, 1",
                                "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "RNASEL familial prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "familial prostate cancer caused by mutation in RNASEL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "prostate cancer 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "prostate cancer, hereditary, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "prostate cancer, hereditary, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "HPC1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "Prca1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "prostate cancer, hereditary, 8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "prostate cancer, hereditary, 8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "prostate cancer, hereditary, type 8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "HPC8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "predisposing for prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "prostate cancer, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "prostate cancer, hereditary, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "prostate cancer, hereditary, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "prostate cancer, hereditary, type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "prostate cancer, susceptibility to, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "HPC3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, hereditary, 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, hereditary, 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, hereditary, type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, susceptibility to, 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "HPC4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, hereditary, on chromosome 7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                                "name": "prostate cancer, hereditary, 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                                "name": "prostate cancer, hereditary, 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                                "name": "prostate cancer, hereditary, type 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                                "name": "HPC5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "prostate cancer, hereditary, 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "prostate cancer, hereditary, 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "prostate cancer, hereditary, type 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "HPC6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "prostate cancer, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                                "name": "prostate cancer, hereditary, 7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                                "name": "HPC7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                                "name": "prostate cancer, hereditary, 7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                                "name": "prostate cancer aggressiveness",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "prostate cancer, hereditary, 9",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "prostate cancer, hereditary, 9",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "prostate cancer, hereditary, type 9",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "HPC9",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012620",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                                "name": "prostate cancer, hereditary, 10",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012620",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                                "name": "HPC10",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012620",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                                "name": "prostate cancer, hereditary, 10",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "prostate cancer, hereditary, 12",
                                "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "EHBP1 familial prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "familial prostate cancer caused by mutation in EHBP1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "prostate cancer, hereditary, 12",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "prostate cancer, hereditary, type 12",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "HPC12",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "prostate cancer, hereditary, 13",
                                "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "MSMB familial prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "familial prostate cancer caused by mutation in MSMB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "prostate cancer, hereditary, 13",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "prostate cancer, hereditary, type 13",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "HPC13",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012768",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                                "name": "prostate cancer, hereditary, 11",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012768",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                                "name": "HPC11",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012768",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                                "name": "prostate cancer, hereditary, 11",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012769",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                                "name": "prostate cancer, hereditary, 14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012769",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                                "name": "HPC14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012769",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                                "name": "prostate cancer, hereditary, 14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012770",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                                "name": "prostate cancer, hereditary, 15",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012770",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                                "name": "HPC15",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012770",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                                "name": "prostate cancer, hereditary, 15",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0700275",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0700275",
                                "name": "prostate cancer, hereditary",
                                "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents."
                            },
                            {
                                "id": "MIM:601518",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/601518",
                                "name": "Prostate cancer, hereditary, 1",
                                "description": "Prostate cancer, hereditary, 1"
                            },
                            {
                                "id": "MIM:610997",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/610997",
                                "name": "Prostate cancer, hereditary, 9",
                                "description": "Prostate cancer, hereditary, 9"
                            },
                            {
                                "id": "MIM:611868",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/611868",
                                "name": "Prostate cancer, hereditary, 12",
                                "description": "Prostate cancer, hereditary, 12"
                            },
                            {
                                "id": "MIM:611928",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/611928",
                                "name": "Prostate cancer, hereditary, 13",
                                "description": "Prostate cancer, hereditary, 13"
                            },
                            {
                                "id": "MIM:611955",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/611955",
                                "name": "Prostate cancer, hereditary, 11",
                                "description": "Prostate cancer, hereditary, 11"
                            },
                            {
                                "id": "MIM:176807",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/176807",
                                "name": "Prostate cancer",
                                "description": "Prostate cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "10283",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:10283"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs1195283345",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1195283345"
                    },
                    {
                        "id": "rs1195283345",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1195283345#frequency_tab"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 374,
                "end_pos": 374,
                "sequence_org": "Y",
                "sequence_mut": "C",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130086",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y374",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1195283345",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1195283345"
                    },
                    {
                        "id": "rs1195283345",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1195283345#frequency_tab"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 374,
                "end_pos": 374,
                "sequence_org": "Y",
                "sequence_mut": "F",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130086",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y374",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs369029338",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369029338"
                    },
                    {
                        "id": "rs369029338",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs369029338"
                    },
                    {
                        "id": "rs369029338",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369029338"
                    },
                    {
                        "id": "rs369029338",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs369029338#frequency_tab"
                    },
                    {
                        "id": "rs369029338",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs369029338"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 375,
                "end_pos": 375,
                "sequence_org": "S",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130088",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "0.00274725",
                "site_lbl": "S375",
                "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs1270509963",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1270509963"
                    },
                    {
                        "id": "rs1270509963",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1270509963#frequency_tab"
                    },
                    {
                        "id": "rs1270509963",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1270509963"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 375,
                "end_pos": 375,
                "sequence_org": "S",
                "sequence_mut": "N",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130089",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S375",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1270509963",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1270509963"
                    },
                    {
                        "id": "rs1270509963",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1270509963#frequency_tab"
                    },
                    {
                        "id": "rs1270509963",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1270509963"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 375,
                "end_pos": 375,
                "sequence_org": "S",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130089",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S375",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1954470017",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954470017"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 375,
                "end_pos": 375,
                "sequence_org": "S",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130089_44130090",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S375",
                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1465688101",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1465688101"
                    },
                    {
                        "id": "rs1465688101",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1465688101#frequency_tab"
                    },
                    {
                        "id": "rs1465688101",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1465688101"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 376,
                "end_pos": 376,
                "sequence_org": "I",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130091",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "0.000196232",
                "site_lbl": "I376",
                "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"
                            }
                        ]
                    },
                    {
                        "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": "rs1954470292",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954470292"
                    },
                    {
                        "id": "rs1954470292",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1954470292#frequency_tab"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 377,
                "end_pos": 377,
                "sequence_org": "L",
                "sequence_mut": "F",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130096",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L377",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1555006433",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555006433"
                    },
                    {
                        "id": "rs1555006433",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1555006433"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 378,
                "end_pos": 378,
                "sequence_org": "Q",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130097",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q378",
                "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": "",
                        "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": 378,
                "end_pos": 378,
                "sequence_org": "Q",
                "sequence_mut": "H",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000011.10",
                "chr_pos": "44130099",
                "ref_nt": "G",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "Q378",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs755395079",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755395079"
                    },
                    {
                        "id": "rs755395079",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755395079"
                    },
                    {
                        "id": "rs755395079",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs755395079"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 378,
                "end_pos": 378,
                "sequence_org": "Q",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130098",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q378",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "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": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 379,
                "end_pos": 379,
                "sequence_org": "S",
                "sequence_mut": "N",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000011.10",
                "chr_pos": "44130101",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "S379",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2134965574",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134965574"
                    },
                    {
                        "id": "rs2134965574",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2134965574"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 37,
                "end_pos": 37,
                "sequence_org": "L",
                "sequence_mut": "P",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107822",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L37",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1954470670",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954470670"
                    },
                    {
                        "id": "rs1954470670",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1954470670"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 382,
                "end_pos": 382,
                "sequence_org": "Q",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130109",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q382",
                "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": "rs1034151519",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1034151519"
                    },
                    {
                        "id": "rs1034151519",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1034151519#frequency_tab"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 382,
                "end_pos": 382,
                "sequence_org": "Q",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130110",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q382",
                "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": "rs753083913",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753083913"
                    },
                    {
                        "id": "rs753083913",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753083913"
                    },
                    {
                        "id": "rs753083913",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs753083913#frequency_tab"
                    },
                    {
                        "id": "rs753083913",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs753083913"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 384,
                "end_pos": 384,
                "sequence_org": "Q",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130115",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q384",
                "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"
                            }
                        ]
                    },
                    {
                        "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": "rs753083913",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753083913"
                    },
                    {
                        "id": "rs753083913",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753083913"
                    },
                    {
                        "id": "rs753083913",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs753083913#frequency_tab"
                    },
                    {
                        "id": "rs753083913",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs753083913"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 384,
                "end_pos": 384,
                "sequence_org": "Q",
                "sequence_mut": "E",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130115",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q384",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1590575253",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1590575253"
                    },
                    {
                        "id": "rs1590575253",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1590575253#frequency_tab"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 384,
                "end_pos": 384,
                "sequence_org": "Q",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130116",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q384",
                "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": "rs2539577578",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2539577578"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 385,
                "end_pos": 385,
                "sequence_org": "I",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130119",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I385",
                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 386,
                "end_pos": 386,
                "subjects_tested": "3601",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "E",
                "sequence_mut": "K",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44130121",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "E386",
                "disease": [
                    {
                        "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",
                                "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": ""
                            },
                            {
                                "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",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "CRC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "large intestine cancer",
                                "description": ""
                            },
                            {
                                "id": "MIM:114500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114500",
                                "name": "Colorectal cancer",
                                "description": "Colorectal cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "9256",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:9256"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1954470920",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954470920"
                    },
                    {
                        "id": "rs1954470920",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1954470920"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 388,
                "end_pos": 388,
                "sequence_org": "M",
                "sequence_mut": "I",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130129",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "M388",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "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": 389,
                "end_pos": 389,
                "sequence_org": "Q",
                "sequence_mut": "*",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000011.10",
                "chr_pos": "44130130",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "Q389",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1203844985",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1203844985"
                    },
                    {
                        "id": "rs1203844985",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1203844985#frequency_tab"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 389,
                "end_pos": 389,
                "sequence_org": "Q",
                "sequence_mut": "E",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130130",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q389",
                "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"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 38,
                "end_pos": 38,
                "subjects_tested": "4484",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "I",
                "sequence_mut": "F",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44107824",
                "ref_nt": "A",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "I38",
                "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"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs768801922",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768801922"
                    },
                    {
                        "id": "rs768801922",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768801922"
                    },
                    {
                        "id": "rs768801922",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs768801922"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 38,
                "end_pos": 38,
                "sequence_org": "I",
                "sequence_mut": "M",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107826",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I38",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1954078392",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954078392"
                    },
                    {
                        "id": "rs1954078392",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1954078392"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 38,
                "end_pos": 38,
                "sequence_org": "I",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107825",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I38",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1954078392",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954078392"
                    },
                    {
                        "id": "rs1954078392",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1954078392"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 38,
                "end_pos": 38,
                "sequence_org": "I",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107825",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I38",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1954471038",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954471038"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 390,
                "end_pos": 390,
                "sequence_org": "R",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130132GA",
                "ref_nt": "]",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R390",
                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs570580540",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs570580540"
                    },
                    {
                        "id": "rs570580540",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs570580540"
                    },
                    {
                        "id": "rs570580540",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs570580540"
                    },
                    {
                        "id": "rs570580540",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs570580540#frequency_tab"
                    },
                    {
                        "id": "rs570580540",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs570580540"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 391,
                "end_pos": 391,
                "sequence_org": "Q",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130136",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "0.000196232",
                "site_lbl": "Q391",
                "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs1457613214",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1457613214"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 391,
                "end_pos": 391,
                "sequence_org": "Q",
                "sequence_mut": "=",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130138",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q391",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs570580540",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs570580540"
                    },
                    {
                        "id": "rs570580540",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs570580540"
                    },
                    {
                        "id": "rs570580540",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs570580540"
                    },
                    {
                        "id": "rs570580540",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs570580540#frequency_tab"
                    },
                    {
                        "id": "rs570580540",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs570580540"
                    },
                    {
                        "id": "rs570580540",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs570580540"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 391,
                "end_pos": 391,
                "sequence_org": "Q",
                "sequence_mut": "K",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000011.10",
                "chr_pos": "44130136",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "0.00020",
                "site_lbl": "Q391",
                "keywords": [
                    "ebi",
                    "somatic",
                    "germline",
                    "disease"
                ],
                "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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:2394",
                        "recommended_name": {
                            "id": "DOID:2394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2394",
                            "name": "ovarian cancer",
                            "description": "A female reproductive organ cancer that is located_in the ovary."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "malignant Ovarian tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "tumor of the Ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas."
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovary cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, epithelial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "OVCAS1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MIM:167000",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/167000",
                                "name": "Ovarian cancer",
                                "description": "Ovarian cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:2151"
                        ],
                        "evidence": [
                            {
                                "id": "2394",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2394"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2394",
                        "recommended_name": {
                            "id": "DOID:2394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2394",
                            "name": "ovarian cancer",
                            "description": "A female reproductive organ cancer that is located_in the ovary."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "malignant Ovarian tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "tumor of the Ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas."
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovary cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, epithelial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "OVCAS1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MIM:167000",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/167000",
                                "name": "Ovarian cancer",
                                "description": "Ovarian cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:2151"
                        ],
                        "evidence": [
                            {
                                "id": "2394",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2394"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2394",
                        "recommended_name": {
                            "id": "DOID:2394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2394",
                            "name": "ovarian cancer",
                            "description": "A female reproductive organ cancer that is located_in the ovary."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "malignant Ovarian tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "tumor of the Ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas."
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovary cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, epithelial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "OVCAS1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MIM:167000",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/167000",
                                "name": "Ovarian cancer",
                                "description": "Ovarian cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:2151"
                        ],
                        "evidence": [
                            {
                                "id": "2394",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2394"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2394",
                        "recommended_name": {
                            "id": "DOID:2394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2394",
                            "name": "ovarian cancer",
                            "description": "A female reproductive organ cancer that is located_in the ovary."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "malignant Ovarian tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "tumor of the Ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas."
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovary cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, epithelial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "OVCAS1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MIM:167000",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/167000",
                                "name": "Ovarian cancer",
                                "description": "Ovarian cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:2151"
                        ],
                        "evidence": [
                            {
                                "id": "2394",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2394"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2394",
                        "recommended_name": {
                            "id": "DOID:2394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2394",
                            "name": "ovarian cancer",
                            "description": "A female reproductive organ cancer that is located_in the ovary."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "malignant Ovarian tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "tumor of the Ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas."
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovary cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, epithelial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "OVCAS1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MIM:167000",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/167000",
                                "name": "Ovarian cancer",
                                "description": "Ovarian cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:2151"
                        ],
                        "evidence": [
                            {
                                "id": "2394",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2394"
                            }
                        ]
                    }
                ]
            },
            {
                "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": 391,
                "end_pos": 391,
                "sequence_org": "Q",
                "sequence_mut": "L",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000011.10",
                "chr_pos": "44130137",
                "ref_nt": "A",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "Q391",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2135029480",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2135029480"
                    },
                    {
                        "id": "rs2135029480",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2135029480"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 391,
                "end_pos": 391,
                "sequence_org": "Q",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130137",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q391",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs757866788",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757866788"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 392,
                "end_pos": 392,
                "sequence_org": "A",
                "sequence_mut": "D",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44171612",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A392",
                "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"
                            }
                        ]
                    }
                ],
                "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": 392,
                "end_pos": 392,
                "subjects_tested": "2003",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "A",
                "sequence_mut": "P",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44171611",
                "ref_nt": "G",
                "alt_nt": "C",
                "minor_allelic_frequency": "",
                "site_lbl": "A392",
                "disease": [
                    {
                        "disease_id": "DOID:3571",
                        "recommended_name": {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "liver cancer",
                            "description": "A hepatobiliary system cancer that is located_in the liver."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "Ca liver - primary",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "Resectable malignant neoplasm of Liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "hepatic cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "hepatic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant hepato-biliary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant neoplasm of liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant neoplasm of liver, primary",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant tumor of liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "neoplasm of liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "non-resectable primary hepatic malignant neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "primary liver cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "primary malignant neoplasm of liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "resectable malignant neoplasm of the liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant neoplasm of liver, not specified as primary or secondary",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "3571",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3571"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2539577681",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2539577681"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 392,
                "end_pos": 392,
                "sequence_org": "A",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44130137_44130138",
                "ref_nt": "p",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A392",
                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs757866788",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757866788"
                    },
                    {
                        "id": "rs757866788",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757866788"
                    },
                    {
                        "id": "rs757866788",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs757866788"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 392,
                "end_pos": 392,
                "sequence_org": "A",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44171612",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A392",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs138187791",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138187791"
                    },
                    {
                        "id": "rs138187791",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs138187791"
                    },
                    {
                        "id": "rs138187791",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138187791"
                    },
                    {
                        "id": "rs138187791",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs138187791#frequency_tab"
                    },
                    {
                        "id": "rs138187791",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs138187791"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 393,
                "end_pos": 393,
                "sequence_org": "R",
                "sequence_mut": "P",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44171615",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R393",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs138187791",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138187791"
                    },
                    {
                        "id": "rs138187791",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs138187791"
                    },
                    {
                        "id": "rs138187791",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138187791"
                    },
                    {
                        "id": "rs138187791",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs138187791#frequency_tab"
                    },
                    {
                        "id": "rs138187791",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs138187791"
                    },
                    {
                        "id": "rs138187791",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs138187791"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 393,
                "end_pos": 393,
                "sequence_org": "R",
                "sequence_mut": "Q",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44171615",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R393",
                "keywords": [
                    "ebi",
                    "somatic",
                    "disease"
                ],
                "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    }
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs145903120",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145903120"
                    },
                    {
                        "id": "rs145903120",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs145903120#frequency_tab"
                    },
                    {
                        "id": "rs145903120",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs145903120"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 393,
                "end_pos": 393,
                "sequence_org": "R",
                "sequence_mut": "W",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44171614",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R393",
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    }
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1191238988",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1191238988"
                    },
                    {
                        "id": "rs1191238988",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1191238988"
                    },
                    {
                        "id": "rs1555012835",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555012835"
                    },
                    {
                        "id": "rs1555012835",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1555012835"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 394,
                "end_pos": 394,
                "sequence_org": "W",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44171618",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "W394",
                "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": "rs769052712",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769052712"
                    },
                    {
                        "id": "rs769052712",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769052712"
                    },
                    {
                        "id": "rs769052712",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs769052712#frequency_tab"
                    },
                    {
                        "id": "rs769052712",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs769052712"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 394,
                "end_pos": 394,
                "sequence_org": "W",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44171617",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "W394",
                "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"
                            }
                        ]
                    },
                    {
                        "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": "rs1191238988",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1191238988"
                    },
                    {
                        "id": "rs1191238988",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1191238988"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 394,
                "end_pos": 394,
                "sequence_org": "W",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44171618",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "W394",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1955074882",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1955074882"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 394,
                "end_pos": 394,
                "sequence_org": "W",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44171616",
                "ref_nt": "p",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "W394",
                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs776907891",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776907891"
                    },
                    {
                        "id": "rs776907891",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776907891"
                    },
                    {
                        "id": "rs776907891",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs776907891#frequency_tab"
                    },
                    {
                        "id": "rs776907891",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs776907891"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 395,
                "end_pos": 395,
                "sequence_org": "F",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44171622",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "F395",
                "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"
                            }
                        ]
                    },
                    {
                        "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": "rs2135127601",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2135127601"
                    },
                    {
                        "id": "rs2135127601",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2135127601"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 395,
                "end_pos": 395,
                "sequence_org": "F",
                "sequence_mut": "Y",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44171621",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "F395",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs750542485",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750542485"
                    },
                    {
                        "id": "rs750542485",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750542485"
                    },
                    {
                        "id": "rs750542485",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs750542485#frequency_tab"
                    },
                    {
                        "id": "rs750542485",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs750542485"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 396,
                "end_pos": 396,
                "sequence_org": "W",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44171624",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "W396",
                "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"
                            }
                        ]
                    },
                    {
                        "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": "",
                        "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": 396,
                "end_pos": 396,
                "sequence_org": "W",
                "sequence_mut": "L",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000011.10",
                "chr_pos": "44171624",
                "ref_nt": "G",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "W396",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2539664719",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2539664719"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 396,
                "end_pos": 396,
                "sequence_org": "W",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44171623_44171629",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "W396",
                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs750542485",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750542485"
                    },
                    {
                        "id": "rs750542485",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750542485"
                    },
                    {
                        "id": "rs750542485",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs750542485#frequency_tab"
                    },
                    {
                        "id": "rs750542485",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs750542485"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 396,
                "end_pos": 396,
                "sequence_org": "W",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44171624",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "W396",
                "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"
                            }
                        ]
                    },
                    {
                        "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"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 397,
                "end_pos": 397,
                "subjects_tested": "2003",
                "subjects_positive": "2",
                "frequency": "0.1",
                "sequence_org": "E",
                "sequence_mut": "Q",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44171626",
                "ref_nt": "G",
                "alt_nt": "C",
                "minor_allelic_frequency": "",
                "site_lbl": "E397",
                "disease": [
                    {
                        "disease_id": "DOID:3571",
                        "recommended_name": {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "liver cancer",
                            "description": "A hepatobiliary system cancer that is located_in the liver."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "Ca liver - primary",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "Resectable malignant neoplasm of Liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "hepatic cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "hepatic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant hepato-biliary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant neoplasm of liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant neoplasm of liver, primary",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant tumor of liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "neoplasm of liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "non-resectable primary hepatic malignant neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "primary liver cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "primary malignant neoplasm of liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "resectable malignant neoplasm of the liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant neoplasm of liver, not specified as primary or secondary",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "3571",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3571"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1590618771",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1590618771"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 397,
                "end_pos": 397,
                "sequence_org": "E",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44171626",
                "ref_nt": "p",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E397",
                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2135127641",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2135127641"
                    },
                    {
                        "id": "rs2135127641",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2135127641"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 398,
                "end_pos": 398,
                "sequence_org": "A",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44171629",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A398",
                "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": "rs770136018",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770136018"
                    },
                    {
                        "id": "rs770136018",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770136018"
                    },
                    {
                        "id": "rs770136018",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs770136018#frequency_tab"
                    },
                    {
                        "id": "rs770136018",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs770136018"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 398,
                "end_pos": 398,
                "sequence_org": "A",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44171630",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A398",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2135127682",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2135127682"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 399,
                "end_pos": 399,
                "sequence_org": "Y",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44171634",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y399",
                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 399,
                "end_pos": 399,
                "subjects_tested": "3601",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "Y",
                "sequence_mut": "H",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44171632",
                "ref_nt": "T",
                "alt_nt": "C",
                "minor_allelic_frequency": "",
                "site_lbl": "Y399",
                "disease": [
                    {
                        "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",
                                "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": ""
                            },
                            {
                                "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",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "CRC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "large intestine cancer",
                                "description": ""
                            },
                            {
                                "id": "MIM:114500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114500",
                                "name": "Colorectal cancer",
                                "description": "Colorectal cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "9256",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:9256"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "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": 39,
                "end_pos": 39,
                "sequence_org": "A",
                "sequence_mut": "T",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000011.10",
                "chr_pos": "44107827",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "A39",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1048335307",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1048335307"
                    },
                    {
                        "id": "rs1048335307",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1048335307"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 39,
                "end_pos": 39,
                "sequence_org": "A",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107828",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A39",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    },
                    {
                        "id": "rs201185639",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201185639"
                    },
                    {
                        "id": "rs201185639",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201185639"
                    },
                    {
                        "id": "rs201185639",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201185639"
                    },
                    {
                        "id": "rs201185639",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs201185639#frequency_tab"
                    },
                    {
                        "id": "rs201185639",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs201185639"
                    },
                    {
                        "id": "rs201185639",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201185639"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 3,
                "end_pos": 3,
                "subjects_tested": "589",
                "subjects_positive": "1",
                "frequency": "0.2",
                "sequence_org": "A",
                "sequence_mut": "V",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44107720",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "A3",
                "disease": [
                    {
                        "disease_id": "DOID:2394",
                        "recommended_name": {
                            "id": "DOID:2394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2394",
                            "name": "ovarian cancer",
                            "description": "A female reproductive organ cancer that is located_in the ovary."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "malignant Ovarian tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "tumor of the Ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas."
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovary cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, epithelial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "OVCAS1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MIM:167000",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/167000",
                                "name": "Ovarian cancer",
                                "description": "Ovarian cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:2151"
                        ],
                        "evidence": [
                            {
                                "id": "2394",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2394"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID: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: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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs773613001",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773613001"
                    },
                    {
                        "id": "rs773613001",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773613001"
                    },
                    {
                        "id": "rs773613001",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs773613001#frequency_tab"
                    },
                    {
                        "id": "rs773613001",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs773613001"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 400,
                "end_pos": 400,
                "sequence_org": "F",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44171637",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "F400",
                "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2394",
                        "recommended_name": {
                            "id": "DOID:2394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2394",
                            "name": "ovarian cancer",
                            "description": "A female reproductive organ cancer that is located_in the ovary."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "malignant Ovarian tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "tumor of the Ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas."
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovary cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, epithelial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "OVCAS1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MIM:167000",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/167000",
                                "name": "Ovarian cancer",
                                "description": "Ovarian cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:2151"
                        ],
                        "evidence": [
                            {
                                "id": "2394",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2394"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2394",
                        "recommended_name": {
                            "id": "DOID:2394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2394",
                            "name": "ovarian cancer",
                            "description": "A female reproductive organ cancer that is located_in the ovary."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "malignant Ovarian tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "tumor of the Ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas."
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovary cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, epithelial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "OVCAS1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MIM:167000",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/167000",
                                "name": "Ovarian cancer",
                                "description": "Ovarian cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:2151"
                        ],
                        "evidence": [
                            {
                                "id": "2394",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2394"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2394",
                        "recommended_name": {
                            "id": "DOID:2394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2394",
                            "name": "ovarian cancer",
                            "description": "A female reproductive organ cancer that is located_in the ovary."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "malignant Ovarian tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "tumor of the Ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas."
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovary cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, epithelial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "OVCAS1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MIM:167000",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/167000",
                                "name": "Ovarian cancer",
                                "description": "Ovarian cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:2151"
                        ],
                        "evidence": [
                            {
                                "id": "2394",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2394"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2394",
                        "recommended_name": {
                            "id": "DOID:2394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2394",
                            "name": "ovarian cancer",
                            "description": "A female reproductive organ cancer that is located_in the ovary."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "malignant Ovarian tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "tumor of the Ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas."
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovary cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, epithelial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "OVCAS1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MIM:167000",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/167000",
                                "name": "Ovarian cancer",
                                "description": "Ovarian cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:2151"
                        ],
                        "evidence": [
                            {
                                "id": "2394",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2394"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2135127706",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2135127706"
                    },
                    {
                        "id": "rs2135127706",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2135127706"
                    },
                    {
                        "id": "rs2135127706",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2135127706"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 401,
                "end_pos": 401,
                "sequence_org": "Q",
                "sequence_mut": "*",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44171638",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q401",
                "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",
                    "somatic",
                    "disease"
                ]
            },
            {
                "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": 401,
                "end_pos": 401,
                "sequence_org": "Q",
                "sequence_mut": "K",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000011.10",
                "chr_pos": "44171638",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "Q401",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2135127698",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2135127698"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 401,
                "end_pos": 401,
                "sequence_org": "Q",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44171638",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q401",
                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1955075568",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1955075568"
                    },
                    {
                        "id": "rs1955075568",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1955075568"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 402,
                "end_pos": 402,
                "sequence_org": "S",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44171642",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S402",
                "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": "rs530523884",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530523884"
                    },
                    {
                        "id": "rs530523884",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs530523884"
                    },
                    {
                        "id": "rs530523884",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530523884"
                    },
                    {
                        "id": "rs530523884",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs530523884#frequency_tab"
                    },
                    {
                        "id": "rs530523884",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs530523884"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 403,
                "end_pos": 403,
                "sequence_org": "I",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44171645",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "0.000981162",
                "site_lbl": "I403",
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    }
                ]
            }
        ]
    }
}
