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        ]
    },
    {
        "title": "Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder.",
        "journal": "The Journal of clinical endocrinology and metabolism",
        "date": "1997-02",
        "authors": "Econs M J, McEnery P T",
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                            {
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                            {
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                                "resource": "MONDO",
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                                "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine neoplasm",
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                            {
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                            {
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                                "name": "malignant neoplasm of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large intestine",
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                            {
                                "id": "MONDO:0005575",
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                            {
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                                "name": "malignant tumor of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large intestine",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large bowel",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large intestine",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large bowel",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large intestine",
                                "description": ""
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
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                                "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": "MIM:114500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114500",
                                "name": "Colorectal cancer",
                                "description": "Colorectal cancer"
                            }
                        ],
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                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:9256"
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                    },
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                            "id": "DOID:0050948",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0050948",
                            "name": "autosomal dominant hypophosphatemic rickets",
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                        },
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008660",
                                "name": "autosomal dominant hypophosphatemic rickets",
                                "description": "Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia."
                            },
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        "title": "A note on fucosidosis in a mentally subnormal female.",
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    {
        "title": "Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations.",
        "journal": "Human molecular genetics",
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        "authors": "Seo H C, Willems P J, O'Brien J S",
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