{
    "batchid": 5,
    "recordid": "P06280-1",
    "recordtype": "protein",
    "sections": {
        "snv": [
            {
                "evidence": [
                    {
                        "id": "P06280",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06280"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 205,
                "end_pos": 205,
                "subjects_tested": "3601",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "P",
                "sequence_mut": "S",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "23",
                "chr_pos": "101400692",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "P205",
                "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": "rs397515870",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs397515870"
                    },
                    {
                        "id": "rs397515870",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs397515870#frequency_tab"
                    },
                    {
                        "id": "rs397515870",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs397515870"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 205,
                "end_pos": 205,
                "sequence_org": "P",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101400692",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P205",
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    }
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs730880448",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs730880448"
                    },
                    {
                        "id": "rs730880448",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs730880448#frequency_tab"
                    },
                    {
                        "id": "rs730880448",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs730880448"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 206,
                "end_pos": 206,
                "sequence_org": "L",
                "sequence_mut": "F",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101400689",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L206",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs730880448",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs730880448"
                    },
                    {
                        "id": "rs730880448",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs730880448#frequency_tab"
                    },
                    {
                        "id": "rs730880448",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs730880448"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 206,
                "end_pos": 206,
                "sequence_org": "L",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101400689",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L206",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs730880449",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs730880449"
                    },
                    {
                        "id": "rs730880449",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs730880449#frequency_tab"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 207,
                "end_pos": 207,
                "sequence_org": "Y",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101400684",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y207",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs797044727",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs797044727"
                    },
                    {
                        "id": "rs797044727",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs797044727"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 207,
                "end_pos": 207,
                "sequence_org": "Y",
                "sequence_mut": "C",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101400685",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y207",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs372416832",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372416832"
                    },
                    {
                        "id": "rs372416832",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372416832"
                    },
                    {
                        "id": "rs372416832",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs372416832#frequency_tab"
                    },
                    {
                        "id": "rs372416832",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs372416832"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 207,
                "end_pos": 207,
                "sequence_org": "Y",
                "sequence_mut": "H",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101400686",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y207",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs797044727",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs797044727"
                    },
                    {
                        "id": "rs797044727",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs797044727"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 207,
                "end_pos": 207,
                "sequence_org": "Y",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101400685",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y207",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs1928279286",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928279286"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 207,
                "end_pos": 207,
                "sequence_org": "Y",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101400675_101400685delinsA",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y207",
                "disease": [
                    {
                        "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": "rs1928280306",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928280306"
                    },
                    {
                        "id": "rs1928280306",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1928280306#frequency_tab"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 208,
                "end_pos": 208,
                "sequence_org": "M",
                "sequence_mut": "I",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101400681",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "M208",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs1064796601",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1064796601"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 208,
                "end_pos": 208,
                "sequence_org": "M",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101400683TA",
                "ref_nt": "]",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "M208",
                "disease": [
                    {
                        "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": "rs869312350",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312350"
                    },
                    {
                        "id": "rs869312350",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs869312350"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 209,
                "end_pos": 209,
                "subjects_tested": "2670",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "W",
                "sequence_mut": "*",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "23",
                "chr_pos": "101400678",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "W209",
                "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",
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P06280",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06280"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 209,
                "end_pos": 209,
                "subjects_tested": "2003",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "W",
                "sequence_mut": "C",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "23",
                "chr_pos": "101400678",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "W209",
                "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": "rs1928280122",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928280122"
                    },
                    {
                        "id": "rs1928280122",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1928280122"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 209,
                "end_pos": 209,
                "sequence_org": "W",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101400680",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "W209",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2147475837",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2147475837"
                    },
                    {
                        "id": "rs2147475837",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2147475837"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 209,
                "end_pos": 209,
                "sequence_org": "W",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101400679",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "W209",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs869312134",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312134"
                    },
                    {
                        "id": "rs869312134",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs869312134"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 20,
                "end_pos": 20,
                "sequence_org": "A",
                "sequence_mut": "D",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101407845",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A20",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs104894847",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104894847"
                    },
                    {
                        "id": "rs104894847",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs104894847"
                    },
                    {
                        "id": "7596372",
                        "database": "PubMed",
                        "url": "https://glygen.org/publication/PubMed/7596372"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 20,
                "end_pos": 20,
                "sequence_org": "A",
                "sequence_mut": "P",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101407846",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A20",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs1555987162",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555987162"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 20,
                "end_pos": 20,
                "sequence_org": "A",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101407822_101407847",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A20",
                "disease": [
                    {
                        "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": "rs2147475821",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2147475821"
                    },
                    {
                        "id": "rs2147475821",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2147475821"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 210,
                "end_pos": 210,
                "sequence_org": "P",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101400677",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P210",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs782717521",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782717521"
                    },
                    {
                        "id": "rs782717521",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782717521"
                    },
                    {
                        "id": "rs782717521",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs782717521"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 211,
                "end_pos": 211,
                "sequence_org": "F",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101400674",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "F211",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "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": 212,
                "end_pos": 212,
                "subjects_tested": "4484",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "Q",
                "sequence_mut": "E",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "23",
                "chr_pos": "101400671",
                "ref_nt": "G",
                "alt_nt": "C",
                "minor_allelic_frequency": "",
                "site_lbl": "Q212",
                "disease": [
                    {
                        "disease_id": "DOID:1612",
                        "recommended_name": {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "breast cancer",
                            "description": "An organ system cancer that originates in the mammary gland."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
                                "name": "breast tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
                                "name": "malignant neoplasm of breast",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
                                "name": "malignant tumor of the breast",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
                                "name": "mammary cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
                                "name": "mammary tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
                                "name": "primary breast cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "hereditary breast carcinoma",
                                "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, lobular, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial breast cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial breast carcinoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial cancer of breast",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial cancer of the breast",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "hereditary breast cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "hereditary breast carcinoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, familial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, familial Male",
                                "description": ""
                            },
                            {
                                "id": "MIM:114480",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114480",
                                "name": "Breast cancer",
                                "description": "Breast cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3017",
                            "DOID:0050938"
                        ],
                        "evidence": [
                            {
                                "id": "1612",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1612"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1372233359",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1372233359"
                    },
                    {
                        "id": "rs1372233359",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1372233359#frequency_tab"
                    },
                    {
                        "id": "rs1372233359",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1372233359"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 212,
                "end_pos": 212,
                "sequence_org": "Q",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101400670",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q212",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs398123214",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs398123214"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 212,
                "end_pos": 212,
                "sequence_org": "Q",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101400677",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q212",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs869312149",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312149"
                    },
                    {
                        "id": "rs869312149",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs869312149"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 213,
                "end_pos": 213,
                "sequence_org": "K",
                "sequence_mut": "M",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101400667",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K213",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs869312149",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312149"
                    },
                    {
                        "id": "rs869312149",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs869312149"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 213,
                "end_pos": 213,
                "sequence_org": "K",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101400667",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K213",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs869312149",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312149"
                    },
                    {
                        "id": "rs869312149",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs869312149"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 213,
                "end_pos": 213,
                "sequence_org": "K",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101400667",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K213",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs869312150",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312150"
                    },
                    {
                        "id": "rs869312150",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs869312150"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 214,
                "end_pos": 214,
                "subjects_tested": "1704",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "P",
                "sequence_mut": "L",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "23",
                "chr_pos": "101398945",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "P214",
                "disease": [
                    {
                        "disease_id": "DOID:363",
                        "recommended_name": {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterine cancer",
                            "description": "A female reproductive organ cancer that is located_in the uterus."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "CA - cancer of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "Tumour of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "malignant neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "malignant uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "uterus neoplasm",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:5166",
                            "DOID:4114",
                            "DOID:2021",
                            "DOID:9460"
                        ],
                        "evidence": [
                            {
                                "id": "363",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:363"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID: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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs869312375",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312375"
                    },
                    {
                        "id": "rs869312375",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs869312375"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 214,
                "end_pos": 214,
                "sequence_org": "P",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398946",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P214",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs727504794",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs727504794"
                    },
                    {
                        "id": "rs727504794",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs727504794"
                    }
                ],
                "glycoeffect": [
                    "n-glyco-sequon-loss"
                ],
                "start_pos": 215,
                "end_pos": 215,
                "sequence_org": "N",
                "sequence_mut": "H",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398943",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N215",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs28935197",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28935197"
                    },
                    {
                        "id": "rs28935197",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs28935197#frequency_tab"
                    },
                    {
                        "id": "rs28935197",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs28935197"
                    },
                    {
                        "id": "7504405",
                        "database": "PubMed",
                        "url": "https://glygen.org/publication/PubMed/7504405"
                    },
                    {
                        "id": "8395937",
                        "database": "PubMed",
                        "url": "https://glygen.org/publication/PubMed/8395937"
                    }
                ],
                "glycoeffect": [
                    "n-glyco-sequon-loss"
                ],
                "start_pos": 215,
                "end_pos": 215,
                "sequence_org": "N",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398942",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N215",
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    }
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs869312377",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312377"
                    },
                    {
                        "id": "rs869312377",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs869312377"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 216,
                "end_pos": 216,
                "sequence_org": "Y",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398938",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y216",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs398123217",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs398123217"
                    },
                    {
                        "id": "rs398123217",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs398123217"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 216,
                "end_pos": 216,
                "sequence_org": "Y",
                "sequence_mut": "C",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398939",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y216",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs1928199003",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928199003"
                    },
                    {
                        "id": "rs1928199003",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1928199003"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 216,
                "end_pos": 216,
                "sequence_org": "Y",
                "sequence_mut": "D",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398940",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y216",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 216,
                "end_pos": 216,
                "subjects_tested": "2003",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "Y",
                "sequence_mut": "S",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "23",
                "chr_pos": "101398939",
                "ref_nt": "T",
                "alt_nt": "G",
                "minor_allelic_frequency": "",
                "site_lbl": "Y216",
                "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": "rs1928199153",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928199153"
                    }
                ],
                "glycoeffect": [
                    "n-glyco-sequon-loss",
                    "o-glyco-site-loss"
                ],
                "start_pos": 216,
                "end_pos": 216,
                "sequence_org": "Y",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398941",
                "ref_nt": "p",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y216",
                "disease": [
                    {
                        "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": "rs2520872389",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520872389"
                    }
                ],
                "glycoeffect": [
                    "n-glyco-sequon-loss",
                    "o-glyco-site-loss"
                ],
                "start_pos": 217,
                "end_pos": 217,
                "sequence_org": "T",
                "sequence_mut": "I",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398936",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "T217",
                "disease": [
                    {
                        "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": "rs869312151",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312151"
                    },
                    {
                        "id": "rs869312151",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs869312151"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 219,
                "end_pos": 219,
                "sequence_org": "I",
                "sequence_mut": "M",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398929",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I219",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs2147473404",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2147473404"
                    },
                    {
                        "id": "rs2147473404",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2147473404"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 219,
                "end_pos": 219,
                "sequence_org": "I",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398930",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I219",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs782164084",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782164084"
                    },
                    {
                        "id": "rs782164084",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782164084"
                    },
                    {
                        "id": "rs782164084",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs782164084"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 21,
                "end_pos": 21,
                "sequence_org": "L",
                "sequence_mut": "F",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101407843",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L21",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs869312135",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312135"
                    },
                    {
                        "id": "rs869312135",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs869312135"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 21,
                "end_pos": 21,
                "sequence_org": "L",
                "sequence_mut": "P",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101407842",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L21",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs727503949",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs727503949"
                    },
                    {
                        "id": "rs727503949",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs727503949"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 220,
                "end_pos": 220,
                "subjects_tested": "1906",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "R",
                "sequence_mut": "*",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "23",
                "chr_pos": "101398928",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "R220",
                "disease": [
                    {
                        "disease_id": "DOID:11054",
                        "recommended_name": {
                            "id": "DOID:11054",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11054",
                            "name": "urinary bladder cancer",
                            "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:11054",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:11054",
                                "name": "bladder cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:11054",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:11054",
                                "name": "tumor of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the bladder."
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "tumor of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "tumour of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "bladder cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "cancer of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm, bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm, urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor, urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant tumour",
                                "description": ""
                            },
                            {
                                "id": "MIM:109800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/109800",
                                "name": "Bladder cancer",
                                "description": "Bladder cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "11054",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:11054"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs869312378",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312378"
                    },
                    {
                        "id": "rs869312378",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs869312378"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 220,
                "end_pos": 220,
                "sequence_org": "R",
                "sequence_mut": "Q",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398927",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R220",
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    }
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs797044747",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs797044747"
                    },
                    {
                        "id": "rs797044747",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs797044747"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 221,
                "end_pos": 221,
                "sequence_org": "Q",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398925",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q221",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs1001754342",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1001754342"
                    },
                    {
                        "id": "rs1001754342",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1001754342"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 221,
                "end_pos": 221,
                "sequence_org": "Q",
                "sequence_mut": "H",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398923",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q221",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2520872143",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520872143"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 221,
                "end_pos": 221,
                "sequence_org": "Q",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398924",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q221",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs398123218",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs398123218"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 221,
                "end_pos": 221,
                "sequence_org": "Q",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398923_101398924",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q221",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs104894851",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104894851"
                    },
                    {
                        "id": "rs104894851",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs104894851"
                    },
                    {
                        "id": "12694230",
                        "database": "PubMed",
                        "url": "https://glygen.org/publication/PubMed/12694230"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 222,
                "end_pos": 222,
                "sequence_org": "Y",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398920",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y222",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs869312380",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312380"
                    },
                    {
                        "id": "rs869312380",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs869312380"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 222,
                "end_pos": 222,
                "sequence_org": "Y",
                "sequence_mut": "D",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398922",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y222",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs869312381",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312381"
                    },
                    {
                        "id": "rs869312381",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs869312381"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 223,
                "end_pos": 223,
                "sequence_org": "C",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398919",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "C223",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs869312381",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312381"
                    },
                    {
                        "id": "rs869312381",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs869312381"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 223,
                "end_pos": 223,
                "sequence_org": "C",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398919",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "C223",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs869312382",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312382"
                    },
                    {
                        "id": "rs869312382",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs869312382"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 223,
                "end_pos": 223,
                "sequence_org": "C",
                "sequence_mut": "Y",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398918",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "C223",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs1555985175",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555985175"
                    },
                    {
                        "id": "rs1555985175",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1555985175"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 224,
                "end_pos": 224,
                "sequence_org": "N",
                "sequence_mut": "D",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398916",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N224",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs869312383",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312383"
                    },
                    {
                        "id": "rs869312383",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs869312383"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 224,
                "end_pos": 224,
                "sequence_org": "N",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398915",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N224",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs869312383",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312383"
                    },
                    {
                        "id": "rs869312383",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs869312383"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 224,
                "end_pos": 224,
                "sequence_org": "N",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398915",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N224",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1928196686",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928196686"
                    },
                    {
                        "id": "rs1928196686",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1928196686"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 225,
                "end_pos": 225,
                "sequence_org": "H",
                "sequence_mut": "D",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398913",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "H225",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs1928196520",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928196520"
                    },
                    {
                        "id": "rs1928196520",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1928196520"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 225,
                "end_pos": 225,
                "sequence_org": "H",
                "sequence_mut": "Q",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398911",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "H225",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2147473301",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2147473301"
                    },
                    {
                        "id": "rs2147473301",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2147473301"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 225,
                "end_pos": 225,
                "sequence_org": "H",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398912",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "H225",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs1928196686",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928196686"
                    },
                    {
                        "id": "rs1928196686",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1928196686"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 225,
                "end_pos": 225,
                "sequence_org": "H",
                "sequence_mut": "Y",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398913",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "H225",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs398123219",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs398123219"
                    },
                    {
                        "id": "rs398123219",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs398123219"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 226,
                "end_pos": 226,
                "sequence_org": "W",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398909",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "W226",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1928196393",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928196393"
                    },
                    {
                        "id": "rs1928196393",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1928196393"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 226,
                "end_pos": 226,
                "sequence_org": "W",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398910",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "W226",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs104894841",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104894841"
                    },
                    {
                        "id": "rs104894841",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs104894841#frequency_tab"
                    },
                    {
                        "id": "rs104894841",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs104894841"
                    },
                    {
                        "id": "7504405",
                        "database": "PubMed",
                        "url": "https://glygen.org/publication/PubMed/7504405"
                    },
                    {
                        "id": "8395937",
                        "database": "PubMed",
                        "url": "https://glygen.org/publication/PubMed/8395937"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 227,
                "end_pos": 227,
                "subjects_tested": "3601",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "R",
                "sequence_mut": "*",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "23",
                "chr_pos": "101398907",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "R227",
                "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs104894840",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104894840"
                    },
                    {
                        "id": "rs104894840",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs104894840"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 227,
                "end_pos": 227,
                "sequence_org": "R",
                "sequence_mut": "P",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398906",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R227",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs104894840",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104894840"
                    },
                    {
                        "id": "rs104894840",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs104894840"
                    },
                    {
                        "id": "7504405",
                        "database": "PubMed",
                        "url": "https://glygen.org/publication/PubMed/7504405"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 227,
                "end_pos": 227,
                "sequence_org": "R",
                "sequence_mut": "Q",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398906",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R227",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs2520871541",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520871541"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 228,
                "end_pos": 228,
                "subjects_tested": "1704",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "N",
                "sequence_mut": "H",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "23",
                "chr_pos": "101398904",
                "ref_nt": "T",
                "alt_nt": "G",
                "minor_allelic_frequency": "",
                "site_lbl": "N228",
                "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",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs869312152",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312152"
                    },
                    {
                        "id": "rs869312152",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs869312152"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 228,
                "end_pos": 228,
                "sequence_org": "N",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398903",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N228",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 229,
                "end_pos": 229,
                "subjects_tested": "3601",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "F",
                "sequence_mut": "C",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "23",
                "chr_pos": "101398900",
                "ref_nt": "A",
                "alt_nt": "C",
                "minor_allelic_frequency": "",
                "site_lbl": "F229",
                "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": "rs869312379",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312379"
                    },
                    {
                        "id": "rs869312379",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs869312379"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 22,
                "end_pos": 22,
                "sequence_org": "V",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101407839",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V22",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2520946121",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520946121"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 22,
                "end_pos": 22,
                "sequence_org": "V",
                "sequence_mut": "I",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101407840",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V22",
                "disease": [
                    {
                        "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": "rs1928195468",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928195468"
                    },
                    {
                        "id": "rs1928195468",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1928195468"
                    }
                ],
                "glycoeffect": [
                    "n-glyco-sequon-gain"
                ],
                "start_pos": 230,
                "end_pos": 230,
                "sequence_org": "A",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398898",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A230",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs1569303295",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1569303295"
                    },
                    {
                        "id": "rs1569303295",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1569303295"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 231,
                "end_pos": 231,
                "sequence_org": "D",
                "sequence_mut": "A",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398894",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "D231",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs797044749",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs797044749"
                    },
                    {
                        "id": "rs797044749",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs797044749"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 232,
                "end_pos": 232,
                "sequence_org": "I",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398891",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I232",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs797044749",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs797044749"
                    },
                    {
                        "id": "rs797044749",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs797044749"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 232,
                "end_pos": 232,
                "sequence_org": "I",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398891",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I232",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs2520871330",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520871330"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 232,
                "end_pos": 232,
                "sequence_org": "I",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398892",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I232",
                "disease": [
                    {
                        "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": "rs1928194620",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928194620"
                    },
                    {
                        "id": "rs1928194620",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1928194620"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 233,
                "end_pos": 233,
                "sequence_org": "D",
                "sequence_mut": "E",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398887",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "D233",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 233,
                "end_pos": 233,
                "subjects_tested": "2617",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "D",
                "sequence_mut": "H",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "23",
                "chr_pos": "101398889",
                "ref_nt": "C",
                "alt_nt": "G",
                "minor_allelic_frequency": "",
                "site_lbl": "D233",
                "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": "rs1057524557",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057524557"
                    },
                    {
                        "id": "rs1057524557",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1057524557"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 234,
                "end_pos": 234,
                "sequence_org": "D",
                "sequence_mut": "H",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398886",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "D234",
                "disease": [
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": "rs1057524557",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057524557"
                    },
                    {
                        "id": "rs1057524557",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1057524557"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 234,
                "end_pos": 234,
                "sequence_org": "D",
                "sequence_mut": "N",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398886",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "D234",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1569303289",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1569303289"
                    },
                    {
                        "id": "rs1569303289",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1569303289"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 234,
                "end_pos": 234,
                "sequence_org": "D",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398885",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "D234",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P06280",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06280"
                    },
                    {
                        "id": "rs1057524557",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057524557"
                    },
                    {
                        "id": "rs1057524557",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1057524557"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 234,
                "end_pos": 234,
                "subjects_tested": "4799",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "D",
                "sequence_mut": "Y",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "23",
                "chr_pos": "101398886",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "D234",
                "disease": [
                    {
                        "disease_id": "DOID:1324",
                        "recommended_name": {
                            "id": "DOID:1324",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1324",
                            "name": "lung cancer",
                            "description": "A respiratory system cancer that is located_in the lung."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": "A malignant neoplasm involving the lung."
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "cancer of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "Nonsmall cell lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "alveolar cell carcinoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "LNCR1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "LNCR3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "adenocarcinoma of lung, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "LNCR4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "LNCR5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:4765"
                        ],
                        "evidence": [
                            {
                                "id": "1324",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1324"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID: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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ]
                    },
                    {
                        "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": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi",
                    "germline"
                ]
            }
        ]
    }
}
