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                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:5041",
                                "name": "Ca middle third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:5041",
                                "name": "esophagus cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
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                                "name": "malignant neoplasm of distal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:5041",
                                "name": "malignant neoplasm of lower third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
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                                "name": "malignant neoplasm of middle third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
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                                "name": "malignant neoplasm of proximal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
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                                "name": "malignant neoplasm of upper third esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
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                                "name": "malignant tumor of Distal Third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
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                                "name": "malignant tumor of Proximal Third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
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                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
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                            },
                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007576",
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0007576",
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                            {
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                            {
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                                "id": "MONDO:0007576",
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                            {
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                            {
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                                "name": "malignant neoplasm of middle third of esophagus",
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                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                                "id": "MONDO:0007576",
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                        "unlinked_id_list": [],
                        "evidence": [
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                    },
                    {
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                            {
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0005575",
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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:0005575",
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                            {
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
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                                "name": "malignant tumor of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
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                                "description": ""
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                            {
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                            {
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "CRC",
                                "description": ""
                            },
                            {
                                "id": "MIM:114500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114500",
                                "name": "Colorectal cancer",
                                "description": "Colorectal cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "9256",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:9256"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:10534",
                        "recommended_name": {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "https://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": "https://disease-ontology.org/term/DOID:10534",
                                "name": "gastric cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:10534",
                                "resource": "Disease Ontology",
                                "url": "https://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",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "Ca lesser curvature - stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "GC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "cancer of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer risk after h. pylori infection",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant gastric neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant gastric tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant gastric tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of lesser curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of the stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant stomach neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of body of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of greater curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of lesser curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of the stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of body of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of greater curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of lesser curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of the stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "stomach cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "Ca body - stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "ca greater curvature of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of body of stomach",
                                "description": ""
                            },
                            {
                                "id": "MIM:613659",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/613659",
                                "name": "Gastric cancer",
                                "description": "Gastric cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "10534",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:10534"
                            },
                            {
                                "id": "10534",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:10534"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0110292",
                        "recommended_name": {
                            "id": "DOID:0110292",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0110292",
                            "name": "autosomal recessive limb-girdle muscular dystrophy type 2O",
                            "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0110292",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110292",
                                "name": "muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110292",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110292",
                                "name": "LGMD2O",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110292",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110292",
                                "name": "MDDGC3",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110292",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110292",
                                "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "autosomal recessive limb-girdle muscular dystrophy type 2O",
                                "description": "Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia."
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "LGMD-POMGNT1 related",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "LGMD2O",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "MDDGC3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "POMGNT1 autosomal recessive limb-girdle muscular dystrophy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "limb-girdle muscular dystrophy type 2O",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:613157",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/613157",
                                "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C3",
                                "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "613157",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/613157"
                            },
                            {
                                "id": "POMGNT1",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMGNT1/#!details"
                            },
                            {
                                "id": "0110292",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0110292"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111236",
                        "recommended_name": {
                            "id": "DOID:0111236",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111236",
                            "name": "congenital muscular dystrophy-dystroglycanopathy type A3",
                            "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111236",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111236",
                                "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111236",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111236",
                                "name": "MDDGA3",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111236",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111236",
                                "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009667",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009667",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3",
                                "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life."
                            },
                            {
                                "id": "MONDO:0009667",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009667",
                                "name": "muscle-eye-brain-POMGNT1 related",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009667",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009667",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009667",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009667",
                                "name": "MDDGA3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009667",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009667",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:253280",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/253280",
                                "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3",
                                "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "253280",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/253280"
                            },
                            {
                                "id": "POMGNT1",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMGNT1/#!details"
                            },
                            {
                                "id": "55624",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/55624#disease"
                            },
                            {
                                "id": "0111236",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111236"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0112378",
                        "recommended_name": {
                            "id": "DOID:0112378",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0112378",
                            "name": "muscular dystrophy-dystroglycanopathy type B3",
                            "description": "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0112378",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0112378",
                                "name": "MDDGB3",
                                "description": ""
                            },
                            {
                                "id": "DOID:0112378",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0112378",
                                "name": "congenital muscular dystrophy POMGNT1-related",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013155",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013155",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013155",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013155",
                                "name": "congenital muscular dystrophy-POMGNT1 related",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013155",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013155",
                                "name": "MDDGB3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013155",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013155",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013155",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013155",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:613151",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/613151",
                                "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3",
                                "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "613151",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/613151"
                            },
                            {
                                "id": "0112378",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0112378"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0061103",
                        "recommended_name": {
                            "id": "DOID:0061103",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0061103",
                            "name": "retinitis pigmentosa 76",
                            "description": "A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0061103",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0061103",
                                "name": "RP76",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "retinitis pigmentosa 76",
                                "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene."
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "POMGNT1 retinitis pigmentosa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "RP76",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "retinitis pigmentosa 76",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "retinitis pigmentosa 76; RP76",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "retinitis pigmentosa caused by mutation in POMGNT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "retinitis pigmentosa type 76",
                                "description": ""
                            },
                            {
                                "id": "MIM:617123",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/617123",
                                "name": "Retinitis pigmentosa 76",
                                "description": "Retinitis pigmentosa 76"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "617123",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/617123"
                            },
                            {
                                "id": "POMGNT1",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMGNT1/#!details"
                            },
                            {
                                "id": "0061103",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0061103"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ],
                "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000",
                "uniprot_canonical_ac": "Q8WZA1-1"
            },
            {
                "evidence": [
                    {
                        "id": "rs886037947",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs886037947"
                    },
                    {
                        "id": "rs886037947",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs886037947"
                    },
                    {
                        "id": "26908613",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/26908613"
                    },
                    {
                        "id": "rs886037947",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs886037947"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 156,
                "end_pos": 156,
                "sequence_org": "E",
                "sequence_mut": "K",
                "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.",
                "chr_id": "1",
                "chr_pos": "46195879",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E156",
                "disease": [
                    {
                        "disease_id": "DOID:0061103",
                        "recommended_name": {
                            "id": "DOID:0061103",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0061103",
                            "name": "retinitis pigmentosa 76",
                            "description": "A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0061103",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0061103",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "retinitis pigmentosa 76",
                                "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene."
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "POMGNT1 retinitis pigmentosa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "RP76",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "retinitis pigmentosa 76",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "retinitis pigmentosa 76; RP76",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "retinitis pigmentosa caused by mutation in POMGNT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "retinitis pigmentosa type 76",
                                "description": ""
                            },
                            {
                                "id": "MIM:617123",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/617123",
                                "name": "Retinitis pigmentosa 76",
                                "description": "Retinitis pigmentosa 76"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "617123",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/617123"
                            },
                            {
                                "id": "POMGNT1",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMGNT1/#!details"
                            },
                            {
                                "id": "0061103",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0061103"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "somatic",
                    "disease"
                ],
                "filter_code": "000001000000000000000.00000000000000.000000000001000000.00001.11.000.000",
                "uniprot_canonical_ac": "Q8WZA1-1"
            },
            {
                "evidence": [
                    {
                        "id": "rs200863680",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200863680"
                    },
                    {
                        "id": "rs200863680",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200863680"
                    },
                    {
                        "id": "rs200863680",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200863680"
                    },
                    {
                        "id": "rs200863680",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs200863680#frequency_tab"
                    },
                    {
                        "id": "rs200863680",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs200863680"
                    },
                    {
                        "id": "26908613",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/26908613"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 287,
                "end_pos": 287,
                "sequence_org": "I",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.",
                "chr_id": "1",
                "chr_pos": "46194293",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I287",
                "disease": [
                    {
                        "disease_id": "DOID:0110292",
                        "recommended_name": {
                            "id": "DOID:0110292",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0110292",
                            "name": "autosomal recessive limb-girdle muscular dystrophy type 2O",
                            "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0110292",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110292",
                                "name": "muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110292",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110292",
                                "name": "LGMD2O",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110292",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110292",
                                "name": "MDDGC3",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110292",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110292",
                                "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "autosomal recessive limb-girdle muscular dystrophy type 2O",
                                "description": "Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia."
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "LGMD-POMGNT1 related",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "LGMD2O",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "MDDGC3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "POMGNT1 autosomal recessive limb-girdle muscular dystrophy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "limb-girdle muscular dystrophy type 2O",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:613157",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/613157",
                                "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C3",
                                "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "613157",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/613157"
                            },
                            {
                                "id": "POMGNT1",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMGNT1/#!details"
                            },
                            {
                                "id": "0110292",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0110292"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111236",
                        "recommended_name": {
                            "id": "DOID:0111236",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111236",
                            "name": "congenital muscular dystrophy-dystroglycanopathy type A3",
                            "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111236",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111236",
                                "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111236",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111236",
                                "name": "MDDGA3",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111236",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111236",
                                "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009667",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009667",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3",
                                "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life."
                            },
                            {
                                "id": "MONDO:0009667",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009667",
                                "name": "muscle-eye-brain-POMGNT1 related",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009667",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009667",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009667",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009667",
                                "name": "MDDGA3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009667",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009667",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:253280",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/253280",
                                "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3",
                                "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "253280",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/253280"
                            },
                            {
                                "id": "POMGNT1",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMGNT1/#!details"
                            },
                            {
                                "id": "55624",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/55624#disease"
                            },
                            {
                                "id": "0111236",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111236"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0112378",
                        "recommended_name": {
                            "id": "DOID:0112378",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0112378",
                            "name": "muscular dystrophy-dystroglycanopathy type B3",
                            "description": "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0112378",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0112378",
                                "name": "MDDGB3",
                                "description": ""
                            },
                            {
                                "id": "DOID:0112378",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0112378",
                                "name": "congenital muscular dystrophy POMGNT1-related",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013155",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013155",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013155",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013155",
                                "name": "congenital muscular dystrophy-POMGNT1 related",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013155",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013155",
                                "name": "MDDGB3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013155",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013155",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013155",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013155",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:613151",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/613151",
                                "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3",
                                "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "613151",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/613151"
                            },
                            {
                                "id": "0112378",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0112378"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0061103",
                        "recommended_name": {
                            "id": "DOID:0061103",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0061103",
                            "name": "retinitis pigmentosa 76",
                            "description": "A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0061103",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0061103",
                                "name": "RP76",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "retinitis pigmentosa 76",
                                "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene."
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "POMGNT1 retinitis pigmentosa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "RP76",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "retinitis pigmentosa 76",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "retinitis pigmentosa 76; RP76",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "retinitis pigmentosa caused by mutation in POMGNT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
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