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      "lastUpdated": "Wed, 10 Jul 2024 16:50:10 -0000",
      "lastAuthor": "Hunter Jessica"
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      "lastUpdated": "Mon, 04 Mar 2024 21:47:07 -0000",
      "lastAuthor": "Pak Christine"
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    "disease": "Hyperargininemia",
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      "lastUpdated": "Wed, 07 Aug 2024 16:49:18 -0000",
      "lastAuthor": "Reynolds Elizabeth"
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    "disease": "Renal cysts and diabetes syndrome (RCAD)",
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      "lastAuthor": "Pak Christine"
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    "disease": "Diamond-Blackfan anemia",
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      "lastAuthor": "Administrator Account Genboree"
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      "lastAuthor": "Pak Christine"
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      "lastAuthor": "Pak Christine"
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      "lastAuthor": "Cope Heidi"
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      "lastUpdated": "Thu, 04 May 2023 23:10:57 -0000",
      "lastAuthor": "Pak Christine"
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    "disease": "Inherited glutathione synthetase deficiency",
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    "disease": "Argininosuccinate Lyase Deficiency",
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      "lastAuthor": "Administrator Account Genboree"
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    "disease": "Hereditary Paragangliomas- Pheochromocytoma Syndrome (Paragangliomas 4)",
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        "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC130",
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      "lastUpdated": "Wed, 09 Feb 2022 13:12:06 -0000",
      "lastAuthor": "Administrator Account Genboree"
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    "disease": "Isovaleric acidemia",
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      "Adult": {
        "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1013",
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          "number": "1.0.2",
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      "lastUpdated": "Wed, 09 Feb 2022 13:22:03 -0000",
      "lastAuthor": "Administrator Account Genboree"
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    "disease": "Rhabdoid tumor predisposition syndrome",
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      "Adult": {
        "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1024",
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      "lastUpdated": "Wed, 09 Feb 2022 13:09:01 -0000",
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        "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1020",
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    "disease": "Carnitine palmitoyltransferase II deficiency",
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                "label": "CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL",
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      "lastAuthor": "Administrator Account Genboree"
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    "disease": "DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy",
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          {
            "label": "Demyelinating peripheral neuropathy",
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      "lastUpdated": "Wed, 09 Feb 2022 12:48:53 -0000",
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    "disease": "Malignant Hyperthermia Susceptibility",
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        "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076",
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          "number": "2.0.1",
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                ],
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                    "label": "Awareness of high-risk situations",
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      "lastUpdated": "Wed, 09 Feb 2022 13:39:07 -0000",
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      "lastUpdated": "Thu, 04 May 2023 22:59:33 -0000",
      "lastAuthor": "Pak Christine"
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                          {
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      "lastUpdated": "Mon, 21 Jun 2021 20:50:47 -0000",
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    "disease": "PTEN Hamartoma Tumor Syndrome - Cowden Syndrome",
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          "Fri, 20 Mar 2015 00:00:00 -0000"
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          {
            "label": "Clinically significant aortic aneurysm",
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      "lastUpdated": "Thu, 21 Apr 2022 16:42:17 -0000",
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      "lastUpdated": "Mon, 11 Apr 2022 17:54:03 -0000",
      "lastAuthor": "Pak Christine"
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    "disease": "Ornithine Transcarbamylase Deficiency",
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            "label": "Morbidity and mortality due to hyperammonemic crises (females)",
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      "lastUpdated": "Tue, 08 Oct 2024 12:51:05 -0000",
      "lastAuthor": "Reynolds Elizabeth"
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        "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1054",
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                "label": "BREAST CANCER",
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      "lastAuthor": "Administrator Account Genboree"
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    "disease": "Carbamoylphosphate synthetase 1 (CPS1) deficiency",
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                "label": "CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO",
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      "lastAuthor": "Jenkins Charisma"
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                    "label": "Gene therapy limited to clinically affected individuals with viable retinal cells",
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      "lastUpdated": "Tue, 25 Feb 2025 19:21:01 -0000",
      "lastAuthor": "Reynolds Elizabeth"
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    "disease": "Glycine encephalopathy",
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        "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1029",
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    "docId": "AC146",
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      "lastAuthor": "Pak Christine"
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    "disease": "Primary pulmonary hypertension 1",
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                    "label": "Avoidance of exacerbating exposures",
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    "docId": "AC153",
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      "lastUpdated": "Wed, 09 Feb 2022 13:59:12 -0000",
      "lastAuthor": "Administrator Account Genboree"
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    "docId": "AC097",
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      "lastUpdated": "Fri, 06 Oct 2023 17:08:00 -0000",
      "lastAuthor": "Cope Heidi"
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    "disease": "Cystathionine Beta-Synthase Deficiency",
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      "lastUpdated": "Tue, 21 Feb 2023 12:48:55 -0000",
      "lastAuthor": "Administrator Account Genboree"
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    "disease": "Tuberous Sclerosis Complex (TSC)",
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            "gene": "TSC2",
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                            "preferredMondo": "0001734",
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                            "preferredMondo": "0001734",
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      "lastUpdated": "Wed, 09 Feb 2022 12:38:00 -0000",
      "lastAuthor": "Administrator Account Genboree"
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    "disease": "Familial Adenomatous Polyposis",
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        "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC048",
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                "label": "FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1",
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                "likelihood": "1A",
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            "label": "Morbidity and mortality due to upper GI (stomach and duodenum) cancer",
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    "docId": "AC118",
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      "lastUpdated": "Thu, 05 Dec 2024 19:15:30 -0000",
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            "label": "Morbidity and mortality due to hepatic dysfunction in the context of citrin deficiency",
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    "docId": "AC136",
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      "lastAuthor": "Mittendorf Kathleen"
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    "disease": "Ovarian cancer",
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        "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC136",
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            "label": "Ovarian cancer",
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                    "preferredMondo": "0016248",
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    "docId": "AC1043",
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      "lastUpdated": "Thu, 20 Oct 2022 16:13:27 -0000",
      "lastAuthor": "Gilmore Mari"
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    "disease": "Glucose-6-phosphate dehydrogenase deficiency",
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        "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1043",
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          "number": "1.0.2",
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    "docId": "AC063",
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      "lastAuthor": "Cope Heidi"
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    "disease": "Hereditary Neuropathy with Liability to Pressure Palsies",
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        "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC063",
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          "Tue, 13 May 2014 00:00:00 -0000",
          "Thu, 26 Apr 2018 00:00:00 -0000"
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                "severity": "1",
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    "docId": "AC128",
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      "lastUpdated": "Fri, 09 May 2025 15:56:14 -0000",
      "lastAuthor": "Cope Heidi"
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    "disease": "GCH-1 associated dopa-responsive dystonia",
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        "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC128",
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    "docId": "AC041",
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    "curationType": "Gene-Condition",
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      "lastUpdated": "Mon, 08 Jan 2024 23:26:41 -0000",
      "lastAuthor": "Gilmore Mari"
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    "disease": "Birt-Hogg-Dubé syndrome",
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          "assertion": "Incomplete"
        },
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          {
            "label": "Morbidity and mortality associated with metabolic decompensation",
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    "docId": "AC105",
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      "lastUpdated": "Mon, 21 Nov 2022 22:04:16 -0000",
      "lastAuthor": "Pak Christine"
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    "disease": "Factor V Leiden, Homozygous (also includes  compound heterozygous FVL + prothrombin G20210A)",
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        "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC105",
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          "number": "1.3.3",
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          {
            "gene": "F5",
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                "label": "THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2",
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          }
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                            "gene": "F5",
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                        ],
                        "natureOfIntervention": "Not Scored",
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                    ]
                  },
                  {
                    "label": "Avoid estrogen-containing compounds that exacerbate VTE risk",
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                    ]
                  },
                  {
                    "label": "Pharmacological prophylaxis for pregnant women",
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      "lastAuthor": "Administrator Account Genboree"
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                "label": "ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY",
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            "label": "Infertility/subfertility in females",
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      "lastUpdated": "Mon, 19 Sep 2022 21:12:39 -0000",
      "lastAuthor": "Cope Heidi"
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        "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1047",
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    "docId": "AC156",
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      "lastUpdated": "Thu, 04 May 2023 22:44:33 -0000",
      "lastAuthor": "Pak Christine"
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    "disease": "Alkaptonuria",
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            "label": "Aortic/cardiac disease",
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      "lastAuthor": "Administrator Account Genboree"
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    "disease": "Multiple Endocrine Neoplasia Type I",
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            "label": "Morbidity from parathyroid adenoma",
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            "label": "Morbidity from other MEN1-related tumors",
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      "lastUpdated": "Fri, 23 May 2025 17:43:12 -0000",
      "lastAuthor": "Gilmore Mari"
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    "docId": "AC069",
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      "lastAuthor": "Administrator Account Genboree"
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            "label": "Endometrial Cancer",
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      "lastUpdated": "Wed, 09 Feb 2022 12:20:29 -0000",
      "lastAuthor": "Administrator Account Genboree"
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    "disease": "Wilms tumor",
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          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
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          {
            "label": "Progression of visual impairment",
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                    "label": "Dietary modification",
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      "lastUpdated": "Sun, 24 Mar 2024 15:03:44 -0000",
      "lastAuthor": "Administrator Account Genboree"
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          {
            "label": "Rhabdomyolysis, muscle damage, and fixed contractions",
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    "docId": "AC004",
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      "lastUpdated": "Wed, 21 May 2025 19:07:23 -0000",
      "lastAuthor": "Gilmore Mari"
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    "disease": "Hypophosphatasia",
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        "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC004",
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                "label": "HYPOPHOSPHATASIA, INFANTILE; HPPI",
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              {
                "label": "HYPOPHOSPHATASIA, CHILDHOOD; HPPC",
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        ],
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          {
            "label": "Morbidity from hypophosphatasia",
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                    "preferredMondo": "0018570",
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                    "preferredMondo": "0018570",
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                ],
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                    "label": "Referral to specialist for management including enzyme replacement therapy as appropriate.",
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                      {
                        "label": "GroupC",
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                            "preferredMondo": "0018570",
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                            "gene": "ALPL",
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    "docId": "AC144",
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      "lastUpdated": "Wed, 08 Apr 2020 20:06:58 -0000",
      "lastAuthor": "Goddard Katrina"
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    "disease": "von Willebrand Disease",
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        "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC144",
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          "number": "1.1.1",
          "date": "Wed, 08 Apr 2020 00:00:00 -0000"
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              {
                "label": "VON WILLEBRAND DISEASE, TYPE 1; VWD1",
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              {
                "label": "VON WILLEBRAND DISEASE, TYPE 3; VWD3",
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                "preferredMondo": "0010191"
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              {
                "label": "VON WILLEBRAND DISEASE, TYPE 2; VWD2",
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        ],
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          {
            "label": "Bleeding complications",
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                    "label": "Pharmacological intervention for scheduled procedures",
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                    ]
                  },
                  {
                    "label": "Anti-hemorrhagic interventions in trauma settings",
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                            "gene": "VWF",
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              },
              {
                "label": "GroupA",
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                    "label": "Pharmacological intervention for scheduled procedures",
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                        ],
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                    "label": "Anti-hemorrhagic interventions in trauma settings",
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                            "preferredMondo": "0013304",
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                    ]
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              }
            ]
          },
          {
            "label": "Clinically significant bleeding",
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                ],
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              },
              {
                "label": "GroupA",
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                  {
                    "preferredMondo": "0013304",
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                ],
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    "docId": "AC090",
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    "curationType": "Gene-Condition",
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      "lastUpdated": "Sun, 24 Mar 2024 15:01:05 -0000",
      "lastAuthor": "Administrator Account Genboree"
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    "disease": "Glycogen Storage Disease 2",
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      "Adult": {
        "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC090",
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          "number": "1.2.6",
          "date": "Sun, 24 Mar 2024 00:00:00 -0000"
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                "label": "GLYCOGEN STORAGE DISEASE II; GSD2",
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          "Fri, 27 Jan 2023 00:00:00 -0000",
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          "Thu, 10 Nov 2016 00:00:00 -0000"
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            "label": "Morbidity and mortality due to acid alpha-glucosidase deficiency",
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    "docId": "AC047",
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      "lastUpdated": "Wed, 09 Feb 2022 12:36:33 -0000",
      "lastAuthor": "Administrator Account Genboree"
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        "@id": "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC047",
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        ],
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          {
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              }
            ]
          },
          {
            "label": "Cerebrovascular events (males)",
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          },
          {
            "label": "Cerebrovascular events (females)",
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          {
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          {
            "label": "End-stage renal disease (females)",
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                ]
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          }
        ]
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      "lastUpdated": "Wed, 09 Feb 2022 13:08:21 -0000",
      "lastAuthor": "Administrator Account Genboree"
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      "lastUpdated": "Wed, 23 Feb 2022 00:28:34 -0000",
      "lastAuthor": "Pak Christine"
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