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    },
    {
        "title": "A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.",
        "journal": "N. Engl. J. Med.",
        "date": "2001",
        "authors": "Schalkwijk J, Zweers M C, Steijlen P M, Dean W B, Taylor G, van Vlijmen I M, van Haren B, Miller W L, Bristow J",
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    {
        "title": "Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome.",
        "journal": "American journal of human genetics",
        "date": "2003-07",
        "authors": "Zweers Manon C, Bristow Jim, Steijlen Peter M, Dean Willow B, Hamel Ben C, Otero Marisol, Kucharekova Martina, Boezeman Jan B, Schalkwijk Joost",
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                                "id": "DOID:9620",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:9620",
                                "name": "vesico-ureteral reflux",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008653",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008653",
                                "name": "vesicoureteral reflux 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008653",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008653",
                                "name": "VUR1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008653",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008653",
                                "name": "Vesicoureteral reflux",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008653",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008653",
                                "name": "vesicoureteral reflux 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008653",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008653",
                                "name": "VUR",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010755",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010755",
                                "name": "vesicoureteral reflux, X-linked",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010755",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010755",
                                "name": "vesicoureteral reflux, X-linked",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010755",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010755",
                                "name": "VURX",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012573",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012573",
                                "name": "vesicoureteral reflux 2",
                                "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene."
                            },
                            {
                                "id": "MONDO:0012573",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012573",
                                "name": "ROBO2 vesicoureteral reflux (disease)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012573",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012573",
                                "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012573",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012573",
                                "name": "vesicoureteral reflux 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012573",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012573",
                                "name": "vesicoureteral reflux type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012573",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012573",
                                "name": "VUR2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013356",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013356",
                                "name": "vesicoureteral reflux 3",
                                "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene."
                            },
                            {
                                "id": "MONDO:0013356",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013356",
                                "name": "SOX17 vesicoureteral reflux (disease)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013356",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013356",
                                "name": "vesicoureteral reflux (disease) caused by mutation in SOX17",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013356",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013356",
                                "name": "vesicoureteral reflux 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013356",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013356",
                                "name": "vesicoureteral reflux type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013356",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013356",
                                "name": "VUR3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013682",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013682",
                                "name": "vesicoureteral reflux 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013682",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013682",
                                "name": "VUR4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013682",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013682",
                                "name": "vesicoureteral reflux 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013683",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013683",
                                "name": "vesicoureteral reflux 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013683",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013683",
                                "name": "VUR5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013683",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013683",
                                "name": "vesicoureteral reflux 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013684",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013684",
                                "name": "vesicoureteral reflux 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013684",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013684",
                                "name": "VUR6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013684",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013684",
                                "name": "vesicoureteral reflux 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014161",
                                "name": "vesicoureteral reflux 7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014161",
                                "name": "VUR7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014161",
                                "name": "vesicoureteral reflux 7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014422",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014422",
                                "name": "vesicoureteral reflux 8",
                                "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene."
                            },
                            {
                                "id": "MONDO:0014422",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014422",
                                "name": "TNXB vesicoureteral reflux (disease)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014422",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014422",
                                "name": "vesicoureteral reflux (disease) caused by mutation in TNXB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014422",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014422",
                                "name": "vesicoureteral reflux 8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014422",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014422",
                                "name": "vesicoureteral reflux type 8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014422",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014422",
                                "name": "VUR8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0044660",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0044660",
                                "name": "menstrual cycle-dependent periodic fever",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0044660",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0044660",
                                "name": "luteal-phase-dependent febrile episode",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0044660",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0044660",
                                "name": "luteal-phase-dependent periodic fever",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0044660",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0044660",
                                "name": "menstrual cycle-dependent febrile episode",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0044660",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0044660",
                                "name": "periodic fever, menstrual cycle dependent",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0044660",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0044660",
                                "name": "periodic fever, menstrual cycle-dependent",
                                "description": ""
                            },
                            {
                                "id": "MIM:610878",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/610878",
                                "name": "Vesicoureteral reflux 2",
                                "description": "Vesicoureteral reflux 2"
                            },
                            {
                                "id": "MIM:613674",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/613674",
                                "name": "Vesicoureteral reflux 3",
                                "description": "Vesicoureteral reflux 3"
                            },
                            {
                                "id": "MIM:615963",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/615963",
                                "name": "Vesicoureteral reflux 8",
                                "description": "Vesicoureteral reflux 8"
                            },
                            {
                                "id": "MIM:614674",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/614674",
                                "name": "Periodic fever, menstrual cycle-dependent",
                                "description": "Periodic fever, menstrual cycle-dependent"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "9620",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:9620"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "uniprot_canonical_ac": "P22105-3"
            },
            {
                "evidence": [
                    {
                        "id": "rs587777684",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587777684"
                    },
                    {
                        "id": "rs587777684",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs587777684"
                    },
                    {
                        "id": "23620400",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/23620400"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1331,
                "end_pos": 1331,
                "sequence_org": "G",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).",
                "chr_id": "6",
                "chr_pos": "32081419",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "G1331",
                "disease": [
                    {
                        "disease_id": "DOID:9620",
                        "recommended_name": {
                            "id": "DOID:9620",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:9620",
                            "name": "vesicoureteral reflux",
                            "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:9620",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:9620",
                                "name": "vesico-ureteral reflux",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008653",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008653",
                                "name": "vesicoureteral reflux 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008653",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008653",
                                "name": "VUR1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008653",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008653",
                                "name": "Vesicoureteral reflux",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008653",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008653",
                                "name": "vesicoureteral reflux 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008653",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008653",
                                "name": "VUR",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010755",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010755",
                                "name": "vesicoureteral reflux, X-linked",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010755",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010755",
                                "name": "vesicoureteral reflux, X-linked",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010755",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010755",
                                "name": "VURX",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012573",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012573",
                                "name": "vesicoureteral reflux 2",
                                "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene."
                            },
                            {
                                "id": "MONDO:0012573",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012573",
                                "name": "ROBO2 vesicoureteral reflux (disease)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012573",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012573",
                                "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012573",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012573",
                                "name": "vesicoureteral reflux 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012573",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012573",
                                "name": "vesicoureteral reflux type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012573",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012573",
                                "name": "VUR2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013356",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013356",
                                "name": "vesicoureteral reflux 3",
                                "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene."
                            },
                            {
                                "id": "MONDO:0013356",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013356",
                                "name": "SOX17 vesicoureteral reflux (disease)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013356",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013356",
                                "name": "vesicoureteral reflux (disease) caused by mutation in SOX17",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013356",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013356",
                                "name": "vesicoureteral reflux 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013356",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013356",
                                "name": "vesicoureteral reflux type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013356",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013356",
                                "name": "VUR3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013682",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013682",
                                "name": "vesicoureteral reflux 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013682",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013682",
                                "name": "VUR4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013682",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013682",
                                "name": "vesicoureteral reflux 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013683",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013683",
                                "name": "vesicoureteral reflux 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013683",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013683",
                                "name": "VUR5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013683",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013683",
                                "name": "vesicoureteral reflux 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013684",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013684",
                                "name": "vesicoureteral reflux 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013684",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013684",
                                "name": "VUR6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013684",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013684",
                                "name": "vesicoureteral reflux 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014161",
                                "name": "vesicoureteral reflux 7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014161",
                                "name": "VUR7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014161",
                                "name": "vesicoureteral reflux 7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014422",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014422",
                                "name": "vesicoureteral reflux 8",
                                "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene."
                            },
                            {
                                "id": "MONDO:0014422",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014422",
                                "name": "TNXB vesicoureteral reflux (disease)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014422",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014422",
                                "name": "vesicoureteral reflux (disease) caused by mutation in TNXB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014422",
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