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    {
        "title": "Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor.",
        "journal": "Blood",
        "date": "1996-10-01",
        "authors": "Eikenboom J C, Matsushita T, Reitsma P H, Tuley E A, Castaman G, Bri\u00ebt E, Sadler J E",
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                    {
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                ],
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                "end_pos": 1149,
                "sequence_org": "C",
                "sequence_mut": "R",
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                "chr_pos": "6022833",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "C1149",
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                                "description": ""
                            },
                            {
                                "id": "DOID:0060573",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060573",
                                "name": "VWD1",
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                            },
                            {
                                "id": "DOID:0060573",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060573",
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                            {
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                                "url": "https://disease-ontology.org/term/DOID:0060573",
                                "name": "von Willebrand disease type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008668",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008668",
                                "name": "von Willebrand disease 1",
                                "description": "Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF)."
                            },
                            {
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008668",
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                            },
                            {
                                "id": "MONDO:0008668",
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                            },
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                                "description": ""
                            },
                            {
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                            },
                            {
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                            },
                            {
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                            },
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                            },
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                                "url": "https://monarchinitiative.org/disease/MONDO:0013304",
                                "name": "von Willebrand disease 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013304",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0013304",
                                "name": "von Willebrand disease type 2",
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                            {
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                            },
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                            {
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                            {
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                                "url": "https://www.omim.org/entry/613554",
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        "title": "The acidic region of the factor VIII light chain and the C2 domain together form the high affinity binding site for von Willebrand factor.",
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    {
        "title": "Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.",
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        "authors": "Morales J, Al-Sharif L, Khalil DS, Shinwari JM, Bavi P, Al-Mahrouqi RA, Al-Rajhi A, Alkuraya FS, Meyer BF, Al Tassan N",
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]
