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                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:5041",
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                            {
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                                "resource": "Disease Ontology",
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                            {
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                            {
                                "id": "DOID:5041",
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                            {
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                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
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                            {
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                            {
                                "id": "MONDO:0007576",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                                "description": "A primary or metastatic malignant neoplasm involving the esophagus."
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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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                            {
                                "id": "MONDO:0007576",
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                            {
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                            {
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                            {
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                                "id": "1324",
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                                "url": "https://www.alliancegenome.org/disease/DOID:1324"
                            }
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            {
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                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
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                ],
                "glycoeffect": [
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                "start_pos": 145,
                "end_pos": 145,
                "subjects_tested": "1773",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "K",
                "sequence_mut": "R",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
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                "chr_pos": "155239636",
                "ref_nt": "T",
                "alt_nt": "C",
                "minor_allelic_frequency": "",
                "site_lbl": "K145",
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                            {
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                            {
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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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                            {
                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                            {
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                            {
                                "id": "MONDO:0007576",
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                            {
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009266",
                                "name": "Gd 2",
                                "description": ""
                            },
                            {
                                "id": "MIM:230900",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/230900",
                                "name": "Gaucher disease 2",
                                "description": "Gaucher disease 2"
                            }
                        ],
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                            {
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                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009266"
                            },
                            {
                                "id": "230900",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/230900"
                            },
                            {
                                "id": "0110958",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0110958"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0110958",
                        "recommended_name": {
                            "id": "DOID:0110958",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110958",
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                            "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22."
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                                "id": "DOID:0110958",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0110958",
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                                "description": ""
                            },
                            {
                                "id": "DOID:0110958",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0110958",
                                "name": "Gaucher Disease, Acute Neuronopathic Type",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110958",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0110958",
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                                "description": ""
                            },
                            {
                                "id": "DOID:0110958",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0110958",
                                "name": "GD2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009266",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009266",
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                                "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2."
                            },
                            {
                                "id": "MONDO:0009266",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009266",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009266",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009266",
                                "name": "Gaucher disease type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009266",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009266",
                                "name": "Gaucher disease, acute neuronopathic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009266",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009266",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009266",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009266",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009266",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009266",
                                "name": "infantile cerebral Gaucher disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009266",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009266",
                                "name": "Gaucher disease type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009266",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009266",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009266",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009266",
                                "name": "Gaucher disease, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009266",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009266",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009266",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009266",
                                "name": "Gd 2",
                                "description": ""
                            },
                            {
                                "id": "MIM:230900",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/230900",
                                "name": "Gaucher disease 2",
                                "description": "Gaucher disease 2"
                            }
                        ],
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                            },
                            {
                                "id": "230900",
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                            },
                            {
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                                "database": "AGR",
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                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0110959",
                        "recommended_name": {
                            "id": "DOID:0110959",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110959",
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                            },
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                                "resource": "Disease Ontology",
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                            },
                            {
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                                "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1."
                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009267",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
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                                "description": ""
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                            {
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                            {
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                            {
                                "id": "MONDO:0009267",
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                            {
                                "id": "MONDO:0009267",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
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                            {
                                "id": "MONDO:0009267",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
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                            {
                                "id": "MONDO:0009267",
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                            {
                                "id": "MONDO:0009267",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
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                            {
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                            {
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                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
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                            },
                            {
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                            {
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                            {
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                                "resource": "MONDO",
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                    {
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                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
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                            {
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                            {
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009267",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
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                                "id": "MONDO:0009267",
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                            {
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                                "description": ""
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                            {
                                "id": "MONDO:0009267",
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                            {
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                                "description": ""
                            },
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                                "description": ""
                            },
                            {
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                                "resource": "MIM",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                            {
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                                "id": "MONDO:0007576",
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                                "id": "MONDO:0007576",
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                                "resource": "MONDO",
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                            {
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                            {
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                            {
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                            },
                            {
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                            {
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                                "resource": "MONDO",
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                                "description": ""
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                            {
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                            {
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                            {
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                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
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                            "DOID:3149"
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                                "url": "http://disease-ontology.org/term/DOID:0110957",
                                "name": "Glucocerebrosidase Deficiency",
                                "description": ""
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                            {
                                "id": "DOID:0110957",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0110957",
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                                "description": ""
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                            {
                                "id": "MONDO:0009265",
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                                "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia."
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                            {
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                            },
                            {
                                "id": "MONDO:0009265",
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                                "description": ""
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                            {
                                "id": "MONDO:0009265",
                                "resource": "MONDO",
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                            },
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                            },
                            {
                                "id": "MONDO:0009265",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009265",
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                                "description": ""
                            },
                            {
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                                "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1."
                            },
                            {
                                "id": "MONDO:0009267",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
                                "name": "GD III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009267",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
                                "name": "Gaucher disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009267",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
                                "name": "Gaucher disease, Subacute neuronopathic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009267",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
                                "name": "Gaucher disease, chronic neuronopathic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009267",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
                                "name": "Gaucher disease, juvenile and adult, cerebral",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009267",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
                                "name": "Gaucher disease, subacute neuronopathic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009267",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
                                "name": "Gaucher's disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009267",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
                                "name": "cerebral juvenile and adult form of Gaucher disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009267",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009267",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
                                "name": "Gaucher disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009267",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
                                "name": "Gaucher disease, Norrbottnian type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009267",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009267",
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                            {
                                "id": "MONDO:0009267",
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                                "description": ""
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                                "id": "MONDO:0009267",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                            {
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                                "resource": "MIM",
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                            {
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                            },
                            {
                                "id": "MONDO:0009268",
                                "resource": "MONDO",
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                                "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome",
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                            {
                                "id": "MONDO:0009268",
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            },
            {
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                "minor_allelic_frequency": "",
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                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009267",
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                            {
                                "id": "MONDO:0009267",
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                                "resource": "Disease Ontology",
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                            {
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                            {
                                "id": "MONDO:0008170",
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0008170",
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
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                            {
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
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                            {
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                            {
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of ovary",
                                "description": ""
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of the ovary",
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                            {
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
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                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
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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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                            {
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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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                            {
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                            },
                            {
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                            {
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                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                                "resource": "MIM",
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                                "description": "Gastric cancer"
                            }
                        ],
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                            },
                            {
                                "id": "10534",
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                            }
                        ]
                    },
                    {
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                        "recommended_name": {
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                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
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                        },
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                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "Ca middle third oesophagus",
                                "description": ""
                            },
                            {
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                                "id": "MONDO:0009265",
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}
