{
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                                "name": "Glycogen storage disease 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease due to acid maltase deficiency, infantile onset",
                                "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal."
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "Pompe disease, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "alpha-1,4-glucosidase acid deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MIM:232300",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232300",
                                "name": "Pompe disease",
                                "description": "Pompe disease"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232300",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232300"
                            },
                            {
                                "id": "2752",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2752"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P10253",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P10253"
                    },
                    {
                        "id": "rs914396317",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs914396317"
                    },
                    {
                        "id": "rs914396317",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs914396317#frequency_tab"
                    },
                    {
                        "id": "rs914396317",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs914396317"
                    },
                    {
                        "id": "rs2510381595",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2510381595"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 619,
                "end_pos": 619,
                "subjects_tested": "1773",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "S",
                "sequence_mut": "R",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "17",
                "chr_pos": "80112680",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "S619",
                "disease": [
                    {
                        "disease_id": "DOID:5041",
                        "recommended_name": {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "esophageal cancer",
                            "description": "A gastrointestinal system cancer that is located_in the esophagus."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "Ca lower third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "Ca middle third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "esophagus cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant neoplasm of distal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant neoplasm of lower third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant neoplasm of middle third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant neoplasm of proximal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant neoplasm of upper third esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant tumor of Distal Third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant tumor of Proximal Third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant tumor of abdominal esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant tumor of the middle Third of the esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the esophagus."
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "cancer of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "cancer of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal carcinoma, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal squamous cell carcinoma, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophagus cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant esophageal neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant esophageal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant esophageal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant esophagus neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant esophagus tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of the esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of the oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant oesophagus neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant oesophagus tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of the esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of the oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "oesophagus cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Ca lower third esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Ca lower third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Ca middle third esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Ca middle third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of distal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of distal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of lower third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of lower third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of middle third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of middle third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of proximal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of proximal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of upper third esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of upper third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of abdominal esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of distal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of proximal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of the middle third of the esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of abdominal oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of distal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of proximal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of the middle third of the oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Aerodigestive tract cancer, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Escc, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal squamous cell carcinoma, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "gastric cardia adenocarcinoma, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MIM:133239",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133239",
                                "name": "Esophageal cancer",
                                "description": "Esophageal cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "5041",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:5041"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:10534",
                        "recommended_name": {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "name": "stomach cancer",
                            "description": "A gastrointestinal system cancer that is located_in the stomach."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:10534",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10534",
                                "name": "gastric cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:10534",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10534",
                                "name": "gastric neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the stomach."
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
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                                "name": "Ca lesser curvature - stomach",
                                "description": ""
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
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                            {
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                            {
                                "id": "MONDO:0001056",
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0001056",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                                "id": "MONDO:0017694",
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                                "description": ""
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                                "id": "MONDO:0017694",
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                                "id": "MONDO:0017694",
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                            {
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                "glycoeffect": [],
                "start_pos": 625,
                "end_pos": 625,
                "sequence_org": "A",
                "sequence_mut": "T",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
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                "chr_pos": "80112696",
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                "minor_allelic_frequency": "",
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                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs746961289"
                    },
                    {
                        "id": "rs746961289",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs746961289"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 629,
                "end_pos": 629,
                "subjects_tested": "4799",
                "subjects_positive": "2",
                "frequency": "0.0",
                "sequence_org": "P",
                "sequence_mut": "L",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "17",
                "chr_pos": "80112709",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "P629",
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                            {
                                "id": "MONDO:0008903",
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                                "id": "MONDO:0008903",
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                            {
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                                "url": "http://disease-ontology.org/term/DOID:2752",
                                "name": "acid maltase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of glucoamylase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "name": "deficiency of maltase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2752",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease due to acid maltase deficiency, infantile onset",
                                "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal."
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "Pompe disease, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "alpha-1,4-glucosidase acid deficiency, infantile onset",
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                            },
                            {
                                "id": "MONDO:0017694",
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                                "description": ""
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                                "description": ""
                            },
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                                "id": "MONDO:0017694",
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                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
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                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0017694",
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                                "description": ""
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                            {
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                                "resource": "MIM",
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                            }
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                            {
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                                "resource": "Disease Ontology",
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2752",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
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                            },
                            {
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                                "description": ""
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                                "url": "http://disease-ontology.org/term/DOID:2752",
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                            },
                            {
                                "id": "DOID:2752",
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                            {
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0017694",
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                                "description": ""
                            },
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                            {
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                            {
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                    {
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                "end_pos": 62,
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                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
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                "minor_allelic_frequency": "",
                "site_lbl": "R62",
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                                "resource": "Disease Ontology",
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                            {
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                            {
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                                "resource": "Disease Ontology",
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                            {
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                            "DOID:4203",
                            "DOID:368",
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                            "DOID:4706"
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                    {
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "name": "malignant lung tumour",
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                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
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                            {
                                "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",
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "alveolar cell carcinoma",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
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                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                                "description": ""
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                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                                "description": ""
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                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                                "id": "MONDO:0012955",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
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                                "id": "MONDO:0013631",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
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                                "resource": "MIM",
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe's disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2752",
                                "name": "acid maltase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of glucoamylase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of maltase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2752",
                                "name": "glycogen storage disease type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease due to acid maltase deficiency, infantile onset",
                                "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal."
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "Pompe disease, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "alpha-1,4-glucosidase acid deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MIM:232300",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232300",
                                "name": "Pompe disease",
                                "description": "Pompe disease"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232300",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232300"
                            },
                            {
                                "id": "2752",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2752"
                            }
                        ]
                    }
                ]
            }
        ]
    }
}
