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                                "id": "MONDO:0005575",
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                                "id": "MONDO:0010526",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010526",
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                                "description": ""
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                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                                "name": "Alpha-galactosidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Anderson-Fabry disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "FD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Fabry disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Fabry's disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Fd",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "alpha galactosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "angiokeratoma corporis diffusum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "deficiency of melibiase",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "diffuse angiokeratoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Fabry disease, Cardiac variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Gla deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "angiokeratoma, diffuse",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "ceramide trihexosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "hereditary dystopic lipidosis",
                                "description": ""
                            },
                            {
                                "id": "MIM:301500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/301500",
                                "name": "Fabry disease",
                                "description": "Fabry disease"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "14499",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:14499"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:14499",
                        "recommended_name": {
                            "id": "DOID:14499",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:14499",
                            "name": "Fabry disease",
                            "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:14499",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:14499",
                                "name": "Alpha-galactosidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:14499",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:14499",
                                "name": "Angiokeratoma Corporis Diffusum",
                                "description": ""
                            },
                            {
                                "id": "DOID:14499",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:14499",
                                "name": "Fabry's disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:14499",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:14499",
                                "name": "alpha galactosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:14499",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:14499",
                                "name": "deficiency of melibiase",
                                "description": ""
                            },
                            {
                                "id": "DOID:14499",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:14499",
                                "name": "Fabry Disease, Cardiac Variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Fabry disease",
                                "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations."
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Alpha-galactosidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Anderson-Fabry disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "FD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Fabry disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Fabry's disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Fd",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "alpha galactosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "angiokeratoma corporis diffusum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "deficiency of melibiase",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "diffuse angiokeratoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Fabry disease, Cardiac variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Gla deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "angiokeratoma, diffuse",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "ceramide trihexosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "hereditary dystopic lipidosis",
                                "description": ""
                            },
                            {
                                "id": "MIM:301500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/301500",
                                "name": "Fabry disease",
                                "description": "Fabry disease"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "14499",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:14499"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P06280",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06280"
                    },
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 105,
                "end_pos": 105,
                "subjects_tested": "3601",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "R",
                "sequence_mut": "K",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "23",
                "chr_pos": "101403866",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "R105",
                "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",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1178979608",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1178979608"
                    },
                    {
                        "id": "rs1178979608",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1178979608#frequency_tab"
                    },
                    {
                        "id": "rs1178979608",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1178979608"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 106,
                "end_pos": 106,
                "sequence_org": "L",
                "sequence_mut": "F",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101403864",
                "ref_nt": "A",
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                "minor_allelic_frequency": "",
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                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "angiokeratoma, diffuse",
                                "description": ""
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                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "ceramide trihexosidase deficiency",
                                "description": ""
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                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
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                                "id": "MIM:301500",
                                "resource": "MIM",
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                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
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                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010526",
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                            {
                                "id": "MONDO:0010526",
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                            {
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                            },
                            {
                                "id": "MONDO:0010526",
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                            {
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                                "resource": "MONDO",
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                            {
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                            },
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                                "id": "MONDO:0010526",
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                                "resource": "MIM",
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                                "id": "MONDO:0010526",
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                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
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                            },
                            {
                                "id": "MONDO:0010526",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Fabry disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Fabry's disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Fd",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "angiokeratoma corporis diffusum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
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                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "diffuse angiokeratoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Fabry disease, Cardiac variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Gla deficiency",
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                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
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                            {
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                            },
                            {
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                                "resource": "MONDO",
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                            {
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                    },
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                            {
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                            {
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                            },
                            {
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                            {
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                                "description": ""
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                                "resource": "Disease Ontology",
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                            {
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                                "resource": "Disease Ontology",
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                            {
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                                "resource": "Disease Ontology",
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                            {
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                            {
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                                "resource": "Disease Ontology",
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                                "description": ""
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                            {
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                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                            {
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                                "resource": "Disease Ontology",
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                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "ceramide trihexosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "hereditary dystopic lipidosis",
                                "description": ""
                            },
                            {
                                "id": "MIM:301500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/301500",
                                "name": "Fabry disease",
                                "description": "Fabry disease"
                            }
                        ],
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                        ]
                    },
                    {
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                                "resource": "Disease Ontology",
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                            {
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                            },
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                            },
                            {
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                            },
                            {
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                                "resource": "MONDO",
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                            },
                            {
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                                "resource": "MONDO",
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                            },
                            {
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                                "resource": "MONDO",
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                            },
                            {
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                                "resource": "MONDO",
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "angiokeratoma corporis diffusum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "deficiency of melibiase",
                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "diffuse angiokeratoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                            }
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                                "name": "Angiokeratoma Corporis Diffusum",
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                            },
                            {
                                "id": "DOID:14499",
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                            {
                                "id": "DOID:14499",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:14499",
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                            },
                            {
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                            {
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                            },
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                            {
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                            {
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                            {
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            },
            {
                "evidence": [
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                "start_pos": 118,
                "end_pos": 118,
                "subjects_tested": "4484",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "R",
                "sequence_mut": "C",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "23",
                "chr_pos": "101403828",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "R118",
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                            {
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                                "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
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                            {
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                                "description": ""
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                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
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                                "description": ""
                            },
                            {
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                                "description": ""
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                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
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                            },
                            {
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                                "id": "MONDO:0016419",
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                            {
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                                "description": ""
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, familial Male",
                                "description": ""
                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114480",
                                "name": "Breast cancer",
                                "description": "Breast cancer"
                            }
                        ],
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                            "DOID:0050938"
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                    },
                    {
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                            "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                                "description": ""
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                            {
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                                "description": ""
                            },
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                                "description": ""
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                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
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                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "FD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Fabry disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                                "name": "Fabry's disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
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                            {
                                "id": "MONDO:0010526",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
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                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                                "id": "MONDO:0010526",
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                            {
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
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                            {
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                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "FD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
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                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010526",
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                                "id": "MONDO:0010526",
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                            {
                                "id": "MONDO:0010526",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                            "url": "http://disease-ontology.org/term/DOID:14499",
                            "name": "Fabry disease",
                            "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:14499",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:14499",
                                "name": "Alpha-galactosidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:14499",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:14499",
                                "name": "Angiokeratoma Corporis Diffusum",
                                "description": ""
                            },
                            {
                                "id": "DOID:14499",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:14499",
                                "name": "Fabry's disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:14499",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:14499",
                                "name": "alpha galactosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:14499",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:14499",
                                "name": "deficiency of melibiase",
                                "description": ""
                            },
                            {
                                "id": "DOID:14499",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:14499",
                                "name": "Fabry Disease, Cardiac Variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Fabry disease",
                                "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations."
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Alpha-galactosidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Anderson-Fabry disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "FD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Fabry disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Fabry's disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Fd",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "alpha galactosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "angiokeratoma corporis diffusum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "deficiency of melibiase",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "diffuse angiokeratoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Fabry disease, Cardiac variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Gla deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "angiokeratoma, diffuse",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "ceramide trihexosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "hereditary dystopic lipidosis",
                                "description": ""
                            },
                            {
                                "id": "MIM:301500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/301500",
                                "name": "Fabry disease",
                                "description": "Fabry disease"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "14499",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:14499"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            }
        ]
    }
}
