{
    "batchid": 22,
    "recordid": "P35573-1",
    "recordtype": "protein",
    "sections": {
        "snv": [
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    },
                    {
                        "id": "rs1223653522",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1223653522"
                    },
                    {
                        "id": "rs1223653522",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1223653522"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 745,
                "end_pos": 745,
                "subjects_tested": "2003",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "A",
                "sequence_mut": "T",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99881616",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "A745",
                "disease": [
                    {
                        "disease_id": "DOID:3571",
                        "recommended_name": {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "liver cancer",
                            "description": "A hepatobiliary system cancer that is located_in the liver."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "Ca liver - primary",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "Resectable malignant neoplasm of Liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "hepatic cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "hepatic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant hepato-biliary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant neoplasm of liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant neoplasm of liver, primary",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant tumor of liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "neoplasm of liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "non-resectable primary hepatic malignant neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "primary liver cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "primary malignant neoplasm of liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "resectable malignant neoplasm of the liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant neoplasm of liver, not specified as primary or secondary",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "3571",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3571"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1570445796",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1570445796"
                    },
                    {
                        "id": "rs1570445796",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1570445796"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 746,
                "end_pos": 746,
                "sequence_org": "V",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881620",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V746",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1652038002",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652038002"
                    },
                    {
                        "id": "rs1652038002",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1652038002"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 746,
                "end_pos": 746,
                "sequence_org": "V",
                "sequence_mut": "I",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881619",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V746",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1652038882",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652038882"
                    },
                    {
                        "id": "rs1652038882",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1652038882"
                    },
                    {
                        "id": "rs1652038882",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1652038882"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 748,
                "end_pos": 748,
                "sequence_org": "R",
                "sequence_mut": "G",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881625",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R748",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "somatic",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2524654576",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2524654576"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 748,
                "end_pos": 748,
                "sequence_org": "R",
                "sequence_mut": "I",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881626",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R748",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs891610687",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs891610687"
                    },
                    {
                        "id": "rs891610687",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs891610687"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 749,
                "end_pos": 749,
                "sequence_org": "T",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881628",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "T749",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1264891129",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1264891129"
                    },
                    {
                        "id": "rs1264891129",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1264891129"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 74,
                "end_pos": 74,
                "sequence_org": "E",
                "sequence_mut": "D",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99861642",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E74",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs764257205",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764257205"
                    },
                    {
                        "id": "rs764257205",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764257205"
                    },
                    {
                        "id": "rs764257205",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs764257205#frequency_tab"
                    },
                    {
                        "id": "rs764257205",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs764257205"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 74,
                "end_pos": 74,
                "sequence_org": "E",
                "sequence_mut": "K",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99861640",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E74",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1553183207",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1553183207"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 74,
                "end_pos": 74,
                "sequence_org": "E",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99861639AGA",
                "ref_nt": "]",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E74",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 750,
                "end_pos": 750,
                "sequence_org": "A",
                "sequence_mut": "D",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000001.11",
                "chr_pos": "99881632",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "A750",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs139950099",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139950099"
                    },
                    {
                        "id": "rs139950099",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139950099"
                    },
                    {
                        "id": "rs139950099",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs139950099#frequency_tab"
                    },
                    {
                        "id": "rs139950099",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs139950099"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 750,
                "end_pos": 750,
                "sequence_org": "A",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881631",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A750",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 751,
                "end_pos": 751,
                "sequence_org": "F",
                "sequence_mut": "L",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000001.11",
                "chr_pos": "99881636",
                "ref_nt": "C",
                "alt_nt": "G",
                "minor_allelic_frequency": "",
                "site_lbl": "F751",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1652039564",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652039564"
                    },
                    {
                        "id": "rs1652039564",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1652039564"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 752,
                "end_pos": 752,
                "sequence_org": "R",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881639",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R752",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 754,
                "end_pos": 754,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "P",
                "sequence_mut": "L",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99881644",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "P754",
                "disease": [
                    {
                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "skin cancer",
                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3451",
                            "DOID:3149"
                        ],
                        "evidence": [
                            {
                                "id": "4159",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    },
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [
                    "n-glyco-sequon-gain",
                    "o-glyco-site-loss"
                ],
                "start_pos": 755,
                "end_pos": 755,
                "subjects_tested": "1704",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "K",
                "sequence_mut": "N",
                "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KTS->NTS).",
                "chr_id": "1",
                "chr_pos": "99881648",
                "ref_nt": "G",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "K755",
                "disease": [
                    {
                        "disease_id": "DOID:363",
                        "recommended_name": {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterine cancer",
                            "description": "A female reproductive organ cancer that is located_in the uterus."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "CA - cancer of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "Tumour of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "malignant neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "malignant uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "uterus neoplasm",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:5166",
                            "DOID:4114",
                            "DOID:2021",
                            "DOID:9460"
                        ],
                        "evidence": [
                            {
                                "id": "363",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:363"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs758272465",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758272465"
                    },
                    {
                        "id": "rs758272465",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758272465"
                    },
                    {
                        "id": "rs758272465",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs758272465"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 755,
                "end_pos": 755,
                "sequence_org": "K",
                "sequence_mut": "Q",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881646",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K755",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1419239485",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1419239485"
                    },
                    {
                        "id": "rs1419239485",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1419239485"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 755,
                "end_pos": 755,
                "sequence_org": "K",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881647",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K755",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs781371440",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781371440"
                    },
                    {
                        "id": "rs781371440",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781371440"
                    },
                    {
                        "id": "rs781371440",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs781371440"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 756,
                "end_pos": 756,
                "sequence_org": "T",
                "sequence_mut": "A",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881649",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "T756",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs746130741",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746130741"
                    },
                    {
                        "id": "rs746130741",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746130741"
                    },
                    {
                        "id": "rs746130741",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs746130741"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 757,
                "end_pos": 757,
                "sequence_org": "S",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881653",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S757",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1652040664",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652040664"
                    },
                    {
                        "id": "rs1652040664",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1652040664"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 757,
                "end_pos": 757,
                "sequence_org": "S",
                "sequence_mut": "A",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881652",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S757",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs746130741",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746130741"
                    },
                    {
                        "id": "rs746130741",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746130741"
                    },
                    {
                        "id": "rs746130741",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs746130741"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 757,
                "end_pos": 757,
                "sequence_org": "S",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881653",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S757",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2100760610",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2100760610"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 759,
                "end_pos": 759,
                "sequence_org": "Y",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881660",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y759",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1652041472",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652041472"
                    },
                    {
                        "id": "rs1652041472",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1652041472#frequency_tab"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 759,
                "end_pos": 759,
                "sequence_org": "Y",
                "sequence_mut": "H",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881658",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y759",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    },
                    {
                        "id": "rs142368729",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142368729"
                    },
                    {
                        "id": "rs142368729",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142368729"
                    },
                    {
                        "id": "rs142368729",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs142368729#frequency_tab"
                    },
                    {
                        "id": "rs142368729",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs142368729"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 75,
                "end_pos": 75,
                "subjects_tested": "9251",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "D",
                "sequence_mut": "G",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99861644",
                "ref_nt": "A",
                "alt_nt": "G",
                "minor_allelic_frequency": "",
                "site_lbl": "D75",
                "disease": [
                    {
                        "disease_id": "DOID:2531",
                        "recommended_name": {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2531",
                            "name": "hematologic cancer",
                            "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2531",
                                "name": "Hematologic malignancy",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2531",
                                "name": "Hematologic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2531",
                                "name": "Hematological tumors",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2531",
                                "name": "blood cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic and lymphoid system tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic tumors",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2531",
                                "name": "malignant hematopoietic neoplasm",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:0080638",
                            "DOID:7757",
                            "DOID:706",
                            "DOID:0050743",
                            "DOID:6536",
                            "DOID:1039",
                            "DOID:1036",
                            "DOID:0081452",
                            "DOID:4960",
                            "DOID:5772",
                            "DOID:5604",
                            "DOID:8527"
                        ],
                        "evidence": [
                            {
                                "id": "2531",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2531"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    },
                    {
                        "id": "rs1650046049",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1650046049"
                    },
                    {
                        "id": "rs1650046049",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1650046049"
                    },
                    {
                        "id": "rs1650046049",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1650046049"
                    }
                ],
                "glycoeffect": [
                    "n-glyco-sequon-gain"
                ],
                "start_pos": 75,
                "end_pos": 75,
                "subjects_tested": "4799",
                "subjects_positive": "2",
                "frequency": "0.0",
                "sequence_org": "D",
                "sequence_mut": "N",
                "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DDS->NDS).",
                "chr_id": "1",
                "chr_pos": "99861643",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "D75",
                "disease": [
                    {
                        "disease_id": "DOID:1324",
                        "recommended_name": {
                            "id": "DOID:1324",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1324",
                            "name": "lung cancer",
                            "description": "A respiratory system cancer that is located_in the lung."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": "A malignant neoplasm involving the lung."
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "cancer of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "Nonsmall cell lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "alveolar cell carcinoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "LNCR1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "LNCR3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "adenocarcinoma of lung, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "LNCR4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "LNCR5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:4765"
                        ],
                        "evidence": [
                            {
                                "id": "1324",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1324"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1557764694",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1557764694"
                    },
                    {
                        "id": "rs1557764694",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1557764694#frequency_tab"
                    },
                    {
                        "id": "rs1557764694",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1557764694"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 760,
                "end_pos": 760,
                "sequence_org": "S",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881661",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S760",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1557764702",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1557764702"
                    },
                    {
                        "id": "rs1557764702",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1557764702"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 760,
                "end_pos": 760,
                "sequence_org": "S",
                "sequence_mut": "N",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881662",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S760",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1057517136",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057517136"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 760,
                "end_pos": 760,
                "sequence_org": "S",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881661",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S760",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2524655080",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2524655080"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 761,
                "end_pos": 761,
                "sequence_org": "K",
                "sequence_mut": "N",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881666",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K761",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2100760660",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2100760660"
                    },
                    {
                        "id": "rs2100760660",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2100760660"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 761,
                "end_pos": 761,
                "sequence_org": "K",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881665",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K761",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2100760670",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2100760670"
                    },
                    {
                        "id": "rs2100760670",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2100760670"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 764,
                "end_pos": 764,
                "sequence_org": "P",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881674",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P764",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1001668435",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1001668435"
                    },
                    {
                        "id": "rs1001668435",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1001668435#frequency_tab"
                    },
                    {
                        "id": "rs1001668435",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1001668435"
                    },
                    {
                        "id": "rs1001668435",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1001668435"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 766,
                "end_pos": 766,
                "sequence_org": "M",
                "sequence_mut": "I",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881681",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "M766",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs749372877",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749372877"
                    },
                    {
                        "id": "rs749372877",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749372877"
                    },
                    {
                        "id": "rs749372877",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs749372877"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 767,
                "end_pos": 767,
                "sequence_org": "C",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881682",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "C767",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    },
                    {
                        "id": "rs749372877",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749372877"
                    },
                    {
                        "id": "rs749372877",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749372877"
                    },
                    {
                        "id": "rs749372877",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs749372877"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 767,
                "end_pos": 767,
                "subjects_tested": "719",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "C",
                "sequence_mut": "R",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99881682",
                "ref_nt": "T",
                "alt_nt": "C",
                "minor_allelic_frequency": "",
                "site_lbl": "C767",
                "disease": [
                    {
                        "disease_id": "DOID:11934",
                        "recommended_name": {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "head and neck cancer",
                            "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:11934",
                                "name": "head and neck neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:11934",
                                "name": "head and neck tumours",
                                "description": ""
                            },
                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:11934",
                                "name": "head/neck neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:11934",
                                "name": "tumor of head and neck",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:1542"
                        ],
                        "evidence": [
                            {
                                "id": "11934",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:11934"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 767,
                "end_pos": 767,
                "sequence_org": "C",
                "sequence_mut": "S",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000001.11",
                "chr_pos": "99881682",
                "ref_nt": "T",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "C767",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs142175455",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142175455"
                    },
                    {
                        "id": "rs142175455",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142175455"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 767,
                "end_pos": 767,
                "sequence_org": "C",
                "sequence_mut": "Y",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881683",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "C767",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1652043382",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652043382"
                    },
                    {
                        "id": "rs1652043382",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1652043382"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 768,
                "end_pos": 768,
                "sequence_org": "I",
                "sequence_mut": "N",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881686",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I768",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    },
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 769,
                "end_pos": 769,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "P",
                "sequence_mut": "H",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99881689",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "P769",
                "disease": [
                    {
                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "skin cancer",
                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3451",
                            "DOID:3149"
                        ],
                        "evidence": [
                            {
                                "id": "4159",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs748436472",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748436472"
                    },
                    {
                        "id": "rs748436472",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748436472"
                    },
                    {
                        "id": "rs748436472",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs748436472#frequency_tab"
                    },
                    {
                        "id": "rs748436472",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs748436472"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 769,
                "end_pos": 769,
                "sequence_org": "P",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881688",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P769",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs748436472",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748436472"
                    },
                    {
                        "id": "rs748436472",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748436472"
                    },
                    {
                        "id": "rs748436472",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs748436472#frequency_tab"
                    },
                    {
                        "id": "rs748436472",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs748436472"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 769,
                "end_pos": 769,
                "sequence_org": "P",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881688",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P769",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    },
                    {
                        "id": "rs776291432",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776291432"
                    },
                    {
                        "id": "rs776291432",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs776291432#frequency_tab"
                    },
                    {
                        "id": "rs776291432",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs776291432"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 76,
                "end_pos": 76,
                "subjects_tested": "4799",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "D",
                "sequence_mut": "N",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99861646",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "D76",
                "disease": [
                    {
                        "disease_id": "DOID:1324",
                        "recommended_name": {
                            "id": "DOID:1324",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1324",
                            "name": "lung cancer",
                            "description": "A respiratory system cancer that is located_in the lung."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": "A malignant neoplasm involving the lung."
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "cancer of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "Nonsmall cell lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "alveolar cell carcinoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "LNCR1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "LNCR3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "adenocarcinoma of lung, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "LNCR4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "LNCR5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:4765"
                        ],
                        "evidence": [
                            {
                                "id": "1324",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1324"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 770,
                "end_pos": 770,
                "sequence_org": "G",
                "sequence_mut": "D",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000001.11",
                "chr_pos": "99884120",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "G770",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs149914040",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149914040"
                    },
                    {
                        "id": "rs149914040",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149914040"
                    },
                    {
                        "id": "rs149914040",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs149914040#frequency_tab"
                    },
                    {
                        "id": "rs149914040",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs149914040"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 770,
                "end_pos": 770,
                "sequence_org": "G",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881691",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "G770",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 771,
                "end_pos": 771,
                "sequence_org": "K",
                "sequence_mut": "N",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000001.11",
                "chr_pos": "99884124",
                "ref_nt": "A",
                "alt_nt": "C",
                "minor_allelic_frequency": "",
                "site_lbl": "K771",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1237999305",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1237999305"
                    },
                    {
                        "id": "rs1237999305",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1237999305#frequency_tab"
                    },
                    {
                        "id": "rs1237999305",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1237999305"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 772,
                "end_pos": 772,
                "sequence_org": "I",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884125",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I772",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1652260485",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652260485"
                    },
                    {
                        "id": "rs1652260485",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1652260485"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 772,
                "end_pos": 772,
                "sequence_org": "I",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884126",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I772",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1237999305",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1237999305"
                    },
                    {
                        "id": "rs1237999305",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1237999305#frequency_tab"
                    },
                    {
                        "id": "rs1237999305",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1237999305"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 772,
                "end_pos": 772,
                "sequence_org": "I",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884125",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I772",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    },
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 773,
                "end_pos": 773,
                "subjects_tested": "589",
                "subjects_positive": "1",
                "frequency": "0.2",
                "sequence_org": "E",
                "sequence_mut": "K",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99884128",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "E773",
                "disease": [
                    {
                        "disease_id": "DOID:2394",
                        "recommended_name": {
                            "id": "DOID:2394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2394",
                            "name": "ovarian cancer",
                            "description": "A female reproductive organ cancer that is located_in the ovary."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "malignant Ovarian tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "tumor of the Ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas."
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovary cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, epithelial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "OVCAS1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MIM:167000",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/167000",
                                "name": "Ovarian cancer",
                                "description": "Ovarian cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:2151"
                        ],
                        "evidence": [
                            {
                                "id": "2394",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2394"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs776488009",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776488009"
                    },
                    {
                        "id": "rs776488009",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776488009"
                    },
                    {
                        "id": "rs776488009",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs776488009"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 773,
                "end_pos": 773,
                "sequence_org": "E",
                "sequence_mut": "Q",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884128",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E773",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs978080374",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs978080374"
                    },
                    {
                        "id": "rs978080374",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs978080374"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 774,
                "end_pos": 774,
                "sequence_org": "E",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884132",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E774",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs766308910",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766308910"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 774,
                "end_pos": 774,
                "sequence_org": "E",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884129AAG",
                "ref_nt": "]",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E774",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1317312967",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1317312967"
                    },
                    {
                        "id": "rs1317312967",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1317312967#frequency_tab"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 776,
                "end_pos": 776,
                "sequence_org": "V",
                "sequence_mut": "F",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884137",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V776",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1652261779",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652261779"
                    },
                    {
                        "id": "rs1652261779",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1652261779"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 777,
                "end_pos": 777,
                "sequence_org": "L",
                "sequence_mut": "I",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884140",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L777",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1173769424",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1173769424"
                    },
                    {
                        "id": "rs1173769424",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1173769424"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 778,
                "end_pos": 778,
                "sequence_org": "E",
                "sequence_mut": "K",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884143",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E778",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1290129642",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1290129642"
                    },
                    {
                        "id": "rs1290129642",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1290129642"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 780,
                "end_pos": 780,
                "sequence_org": "R",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884149",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R780",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1374626127",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1374626127"
                    },
                    {
                        "id": "rs1374626127",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1374626127#frequency_tab"
                    },
                    {
                        "id": "rs1374626127",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1374626127"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 780,
                "end_pos": 780,
                "sequence_org": "R",
                "sequence_mut": "I",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884150",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R780",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1374626127",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1374626127"
                    },
                    {
                        "id": "rs1374626127",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1374626127#frequency_tab"
                    },
                    {
                        "id": "rs1374626127",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1374626127"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 780,
                "end_pos": 780,
                "sequence_org": "R",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884150",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R780",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 782,
                "end_pos": 782,
                "subjects_tested": "3601",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "I",
                "sequence_mut": "L",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99884155",
                "ref_nt": "A",
                "alt_nt": "C",
                "minor_allelic_frequency": "",
                "site_lbl": "I782",
                "disease": [
                    {
                        "disease_id": "DOID:9256",
                        "recommended_name": {
                            "id": "DOID:9256",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:9256",
                            "name": "colorectal cancer",
                            "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, advanced, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectum cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large intestine",
                                "description": ""
                            },
                            {
                                "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": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "large intestine cancer",
                                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs758947858",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758947858"
                    },
                    {
                        "id": "rs758947858",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758947858"
                    },
                    {
                        "id": "rs758947858",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs758947858"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 782,
                "end_pos": 782,
                "sequence_org": "I",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884155",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I782",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2100768023",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2100768023"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 782,
                "end_pos": 782,
                "sequence_org": "I",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884157",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I782",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs769386639",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769386639"
                    },
                    {
                        "id": "rs769386639",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769386639"
                    },
                    {
                        "id": "rs769386639",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs769386639#frequency_tab"
                    },
                    {
                        "id": "rs769386639",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs769386639"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 783,
                "end_pos": 783,
                "sequence_org": "E",
                "sequence_mut": "K",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884158",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E783",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    },
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 783,
                "end_pos": 783,
                "subjects_tested": "1906",
                "subjects_positive": "2",
                "frequency": "0.1",
                "sequence_org": "E",
                "sequence_mut": "Q",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99884158",
                "ref_nt": "G",
                "alt_nt": "C",
                "minor_allelic_frequency": "",
                "site_lbl": "E783",
                "disease": [
                    {
                        "disease_id": "DOID:11054",
                        "recommended_name": {
                            "id": "DOID:11054",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11054",
                            "name": "urinary bladder cancer",
                            "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:11054",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:11054",
                                "name": "bladder cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:11054",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:11054",
                                "name": "tumor of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the bladder."
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "tumor of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "tumour of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "bladder cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "cancer of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm, bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm, urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor, urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant tumour",
                                "description": ""
                            },
                            {
                                "id": "MIM:109800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/109800",
                                "name": "Bladder cancer",
                                "description": "Bladder cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "11054",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:11054"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    },
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 784,
                "end_pos": 784,
                "subjects_tested": "4799",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "R",
                "sequence_mut": "K",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99884162",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "R784",
                "disease": [
                    {
                        "disease_id": "DOID:1324",
                        "recommended_name": {
                            "id": "DOID:1324",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1324",
                            "name": "lung cancer",
                            "description": "A respiratory system cancer that is located_in the lung."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": "A malignant neoplasm involving the lung."
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "cancer of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "Nonsmall cell lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "alveolar cell carcinoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "LNCR1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "LNCR3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "adenocarcinoma of lung, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "LNCR4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "LNCR5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:4765"
                        ],
                        "evidence": [
                            {
                                "id": "1324",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1324"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs774652075",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774652075"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 784,
                "end_pos": 784,
                "sequence_org": "R",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884158GA",
                "ref_nt": "]",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R784",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs774895900",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774895900"
                    },
                    {
                        "id": "rs774895900",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774895900"
                    },
                    {
                        "id": "rs774895900",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs774895900#frequency_tab"
                    },
                    {
                        "id": "rs774895900",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs774895900"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 785,
                "end_pos": 785,
                "sequence_org": "N",
                "sequence_mut": "D",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884164",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N785",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2524672193",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2524672193"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 785,
                "end_pos": 785,
                "sequence_org": "N",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884164_99884165",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N785",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs147586981",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147586981"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 786,
                "end_pos": 786,
                "sequence_org": "T",
                "sequence_mut": "K",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884168",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "T786",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    },
                    {
                        "id": "rs147586981",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147586981"
                    },
                    {
                        "id": "rs147586981",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147586981"
                    },
                    {
                        "id": "rs147586981",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs147586981#frequency_tab"
                    },
                    {
                        "id": "rs147586981",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs147586981"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 786,
                "end_pos": 786,
                "subjects_tested": "2617",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "T",
                "sequence_mut": "M",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99884168",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "T786",
                "disease": [
                    {
                        "disease_id": "DOID:1793",
                        "recommended_name": {
                            "id": "DOID:1793",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1793",
                            "name": "pancreatic cancer",
                            "description": "An endocrine gland cancer located_in the pancreas."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "Ca body of pancreas",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "Ca head of pancreas",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "Ca tail of pancreas",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "malignant neoplasm of body of pancreas",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "malignant neoplasm of head of pancreas",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "malignant neoplasm of tail of pancreas",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "pancreas neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "pancreatic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "pancreatic tumor",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:1795"
                        ],
                        "evidence": [
                            {
                                "id": "1793",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1793"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1652263730",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652263730"
                    },
                    {
                        "id": "rs1652263730",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1652263730#frequency_tab"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 786,
                "end_pos": 786,
                "sequence_org": "T",
                "sequence_mut": "P",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884167",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "T786",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1652264418",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652264418"
                    },
                    {
                        "id": "rs1652264418",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1652264418"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 788,
                "end_pos": 788,
                "sequence_org": "P",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884174",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P788",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1652264808",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652264808"
                    },
                    {
                        "id": "rs1652264808",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1652264808#frequency_tab"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 789,
                "end_pos": 789,
                "sequence_org": "Y",
                "sequence_mut": "H",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884176",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y789",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs145720433",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145720433"
                    },
                    {
                        "id": "rs145720433",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145720433"
                    },
                    {
                        "id": "rs145720433",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs145720433#frequency_tab"
                    },
                    {
                        "id": "rs145720433",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs145720433"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 789,
                "end_pos": 789,
                "sequence_org": "Y",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884177",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y789",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs778334097",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778334097"
                    },
                    {
                        "id": "rs778334097",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs778334097"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 78,
                "end_pos": 78,
                "sequence_org": "D",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99861653",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "D78",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    },
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 78,
                "end_pos": 78,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "D",
                "sequence_mut": "N",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99861652",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "D78",
                "disease": [
                    {
                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "skin cancer",
                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3451",
                            "DOID:3149"
                        ],
                        "evidence": [
                            {
                                "id": "4159",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:1324",
                        "recommended_name": {
                            "id": "DOID:1324",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1324",
                            "name": "lung cancer",
                            "description": "A respiratory system cancer that is located_in the lung."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": "A malignant neoplasm involving the lung."
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "cancer of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "Nonsmall cell lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "alveolar cell carcinoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "LNCR1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "LNCR3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "adenocarcinoma of lung, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "LNCR4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "LNCR5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:4765"
                        ],
                        "evidence": [
                            {
                                "id": "1324",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1324"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs778334097",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778334097"
                    },
                    {
                        "id": "rs778334097",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs778334097"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 78,
                "end_pos": 78,
                "sequence_org": "D",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99861653",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "D78",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1652265430",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652265430"
                    },
                    {
                        "id": "rs1652265430",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1652265430"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 790,
                "end_pos": 790,
                "sequence_org": "R",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884179",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R790",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    },
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 791,
                "end_pos": 791,
                "subjects_tested": "3601",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "K",
                "sequence_mut": "N",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99884184",
                "ref_nt": "G",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "K791",
                "disease": [
                    {
                        "disease_id": "DOID:9256",
                        "recommended_name": {
                            "id": "DOID:9256",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:9256",
                            "name": "colorectal cancer",
                            "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, advanced, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectum cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large intestine",
                                "description": ""
                            },
                            {
                                "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": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "large intestine cancer",
                                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1557766791",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1557766791"
                    },
                    {
                        "id": "rs1557766791",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1557766791"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 791,
                "end_pos": 791,
                "sequence_org": "K",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884183",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K791",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    },
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 793,
                "end_pos": 793,
                "subjects_tested": "1704",
                "subjects_positive": "2",
                "frequency": "0.1",
                "sequence_org": "E",
                "sequence_mut": "D",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99884190",
                "ref_nt": "G",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "E793",
                "disease": [
                    {
                        "disease_id": "DOID:363",
                        "recommended_name": {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterine cancer",
                            "description": "A female reproductive organ cancer that is located_in the uterus."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "CA - cancer of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "Tumour of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "malignant neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "malignant uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "uterus neoplasm",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:5166",
                            "DOID:4114",
                            "DOID:2021",
                            "DOID:9460"
                        ],
                        "evidence": [
                            {
                                "id": "363",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:363"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1206517501",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1206517501"
                    },
                    {
                        "id": "rs1206517501",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1206517501#frequency_tab"
                    },
                    {
                        "id": "rs1206517501",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1206517501"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 795,
                "end_pos": 795,
                "sequence_org": "S",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884195",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S795",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 795,
                "end_pos": 795,
                "subjects_tested": "3601",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "S",
                "sequence_mut": "A",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99884194",
                "ref_nt": "T",
                "alt_nt": "G",
                "minor_allelic_frequency": "",
                "site_lbl": "S795",
                "disease": [
                    {
                        "disease_id": "DOID:9256",
                        "recommended_name": {
                            "id": "DOID:9256",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:9256",
                            "name": "colorectal cancer",
                            "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, advanced, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectum cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large intestine",
                                "description": ""
                            },
                            {
                                "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": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "large intestine cancer",
                                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1206517501",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1206517501"
                    },
                    {
                        "id": "rs1206517501",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1206517501#frequency_tab"
                    },
                    {
                        "id": "rs1206517501",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1206517501"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 795,
                "end_pos": 795,
                "sequence_org": "S",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884195",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S795",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs754127029",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754127029"
                    },
                    {
                        "id": "rs754127029",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754127029"
                    },
                    {
                        "id": "rs754127029",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs754127029#frequency_tab"
                    },
                    {
                        "id": "rs754127029",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs754127029"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 796,
                "end_pos": 796,
                "sequence_org": "I",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884197",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I796",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs755181585",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755181585"
                    },
                    {
                        "id": "rs755181585",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755181585"
                    },
                    {
                        "id": "rs755181585",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs755181585"
                    }
                ],
                "glycoeffect": [
                    "n-glyco-sequon-loss"
                ],
                "start_pos": 797,
                "end_pos": 797,
                "sequence_org": "N",
                "sequence_mut": "D",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884200",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N797",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs149210307",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149210307"
                    },
                    {
                        "id": "rs149210307",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149210307"
                    },
                    {
                        "id": "rs149210307",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149210307"
                    },
                    {
                        "id": "rs149210307",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs149210307#frequency_tab"
                    },
                    {
                        "id": "rs149210307",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs149210307"
                    }
                ],
                "glycoeffect": [
                    "n-glyco-sequon-loss"
                ],
                "start_pos": 797,
                "end_pos": 797,
                "sequence_org": "N",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884201",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "0.000588697",
                "site_lbl": "N797",
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2524672313",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2524672313"
                    }
                ],
                "glycoeffect": [
                    "n-glyco-sequon-loss"
                ],
                "start_pos": 798,
                "end_pos": 798,
                "sequence_org": "G",
                "sequence_mut": "AL*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884173_99884203",
                "ref_nt": "p",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "G798",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs752730435",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752730435"
                    },
                    {
                        "id": "rs752730435",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752730435"
                    },
                    {
                        "id": "rs752730435",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs752730435"
                    }
                ],
                "glycoeffect": [
                    "n-glyco-sequon-loss",
                    "o-glyco-site-loss"
                ],
                "start_pos": 799,
                "end_pos": 799,
                "sequence_org": "T",
                "sequence_mut": "I",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884207",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "T799",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [
                    "n-glyco-sequon-loss",
                    "o-glyco-site-loss"
                ],
                "start_pos": 799,
                "end_pos": 799,
                "sequence_org": "T",
                "sequence_mut": "K",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000001.11",
                "chr_pos": "99884207",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "T799",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1650047298",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1650047298"
                    },
                    {
                        "id": "rs1650047298",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1650047298"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 79,
                "end_pos": 79,
                "sequence_org": "K",
                "sequence_mut": "E",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99861655",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K79",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 79,
                "end_pos": 79,
                "sequence_org": "K",
                "sequence_mut": "N",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000001.11",
                "chr_pos": "99861657",
                "ref_nt": "A",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "K79",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1648908814",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1648908814"
                    },
                    {
                        "id": "rs1648908814",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1648908814"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 7,
                "end_pos": 7,
                "sequence_org": "I",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99851062",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I7",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1652267866",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652267866"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 800,
                "end_pos": 800,
                "sequence_org": "P",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884208",
                "ref_nt": "p",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P800",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs778492877",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778492877"
                    },
                    {
                        "id": "rs778492877",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778492877"
                    },
                    {
                        "id": "rs778492877",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs778492877#frequency_tab"
                    },
                    {
                        "id": "rs778492877",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs778492877"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 801,
                "end_pos": 801,
                "sequence_org": "D",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884213",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "D801",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1652268068",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652268068"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 801,
                "end_pos": 801,
                "sequence_org": "D",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884210",
                "ref_nt": "p",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "D801",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1652268687",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652268687"
                    },
                    {
                        "id": "rs1652268687",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1652268687"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 802,
                "end_pos": 802,
                "sequence_org": "I",
                "sequence_mut": "F",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884215",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I802",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1652268984",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652268984"
                    },
                    {
                        "id": "rs1652268984",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1652268984"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 802,
                "end_pos": 802,
                "sequence_org": "I",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884216",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I802",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1652268687",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652268687"
                    },
                    {
                        "id": "rs1652268687",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1652268687"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 802,
                "end_pos": 802,
                "sequence_org": "I",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884215",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I802",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs148359033",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148359033"
                    },
                    {
                        "id": "rs148359033",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148359033"
                    },
                    {
                        "id": "rs148359033",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs148359033#frequency_tab"
                    },
                    {
                        "id": "rs148359033",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs148359033"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 803,
                "end_pos": 803,
                "sequence_org": "T",
                "sequence_mut": "A",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884218",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "T803",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs771475215",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771475215"
                    },
                    {
                        "id": "rs771475215",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771475215"
                    },
                    {
                        "id": "rs771475215",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs771475215#frequency_tab"
                    },
                    {
                        "id": "rs771475215",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs771475215"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 803,
                "end_pos": 803,
                "sequence_org": "T",
                "sequence_mut": "I",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884219",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "T803",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs771475215",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771475215"
                    },
                    {
                        "id": "rs771475215",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771475215"
                    },
                    {
                        "id": "rs771475215",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs771475215#frequency_tab"
                    },
                    {
                        "id": "rs771475215",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs771475215"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 803,
                "end_pos": 803,
                "sequence_org": "T",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884219",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "T803",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1170443772",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1170443772"
                    },
                    {
                        "id": "rs1170443772",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1170443772"
                    },
                    {
                        "id": "rs1170443772",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1170443772"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 804,
                "end_pos": 804,
                "sequence_org": "V",
                "sequence_mut": "A",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884222",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V804",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1199459481",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1199459481"
                    },
                    {
                        "id": "rs1199459481",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1199459481"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 804,
                "end_pos": 804,
                "sequence_org": "V",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884221",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V804",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1652271063",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652271063"
                    },
                    {
                        "id": "rs1652271063",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1652271063#frequency_tab"
                    },
                    {
                        "id": "rs1652271063",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1652271063"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 805,
                "end_pos": 805,
                "sequence_org": "E",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884225",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E805",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    },
                    {
                        "id": "rs1368670677",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1368670677"
                    },
                    {
                        "id": "rs1368670677",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1368670677"
                    },
                    {
                        "id": "rs1368670677",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1368670677"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 805,
                "end_pos": 805,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "E",
                "sequence_mut": "K",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99884224",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "E805",
                "disease": [
                    {
                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "skin cancer",
                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3451",
                            "DOID:3149"
                        ],
                        "evidence": [
                            {
                                "id": "4159",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs780678357",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780678357"
                    },
                    {
                        "id": "rs780678357",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780678357"
                    },
                    {
                        "id": "rs780678357",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs780678357#frequency_tab"
                    },
                    {
                        "id": "rs780678357",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs780678357"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 806,
                "end_pos": 806,
                "sequence_org": "I",
                "sequence_mut": "M",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884229",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I806",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs745494264",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745494264"
                    },
                    {
                        "id": "rs745494264",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745494264"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 807,
                "end_pos": 807,
                "sequence_org": "R",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884232",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R807",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 808,
                "end_pos": 808,
                "subjects_tested": "1704",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "E",
                "sequence_mut": "*",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99884233",
                "ref_nt": "G",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "E808",
                "disease": [
                    {
                        "disease_id": "DOID:363",
                        "recommended_name": {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterine cancer",
                            "description": "A female reproductive organ cancer that is located_in the uterus."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "CA - cancer of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "Tumour of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "malignant neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "malignant uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "uterus neoplasm",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:5166",
                            "DOID:4114",
                            "DOID:2021",
                            "DOID:9460"
                        ],
                        "evidence": [
                            {
                                "id": "363",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:363"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 809,
                "end_pos": 809,
                "subjects_tested": "4799",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "H",
                "sequence_mut": "N",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99884236",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "H809",
                "disease": [
                    {
                        "disease_id": "DOID:1324",
                        "recommended_name": {
                            "id": "DOID:1324",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1324",
                            "name": "lung cancer",
                            "description": "A respiratory system cancer that is located_in the lung."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": "A malignant neoplasm involving the lung."
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "cancer of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "Nonsmall cell lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "alveolar cell carcinoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "LNCR1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "LNCR3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "adenocarcinoma of lung, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "LNCR4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "LNCR5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:4765"
                        ],
                        "evidence": [
                            {
                                "id": "1324",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1324"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs761894580",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761894580"
                    },
                    {
                        "id": "rs761894580",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761894580"
                    },
                    {
                        "id": "rs761894580",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs761894580#frequency_tab"
                    },
                    {
                        "id": "rs761894580",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs761894580"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 80,
                "end_pos": 80,
                "sequence_org": "Y",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99861660",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y80",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1284127927",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1284127927"
                    },
                    {
                        "id": "rs1284127927",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1284127927#frequency_tab"
                    },
                    {
                        "id": "rs1284127927",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1284127927"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 80,
                "end_pos": 80,
                "sequence_org": "Y",
                "sequence_mut": "C",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99861659",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y80",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    },
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 80,
                "end_pos": 80,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "Y",
                "sequence_mut": "N",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99861658",
                "ref_nt": "T",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "Y80",
                "disease": [
                    {
                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "skin cancer",
                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3451",
                            "DOID:3149"
                        ],
                        "evidence": [
                            {
                                "id": "4159",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs542001385",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542001385"
                    },
                    {
                        "id": "rs542001385",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542001385"
                    },
                    {
                        "id": "rs542001385",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs542001385#frequency_tab"
                    },
                    {
                        "id": "rs542001385",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs542001385"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 810,
                "end_pos": 810,
                "sequence_org": "I",
                "sequence_mut": "M",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884241",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I810",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1037155853",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1037155853"
                    },
                    {
                        "id": "rs1037155853",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1037155853#frequency_tab"
                    },
                    {
                        "id": "rs1037155853",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1037155853"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 810,
                "end_pos": 810,
                "sequence_org": "I",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884240",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I810",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1652272079",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652272079"
                    },
                    {
                        "id": "rs1652272079",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1652272079"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 810,
                "end_pos": 810,
                "sequence_org": "I",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884239",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I810",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs948466428",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs948466428"
                    },
                    {
                        "id": "rs948466428",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs948466428"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 811,
                "end_pos": 811,
                "sequence_org": "Q",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884243",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q811",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1163701952",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1163701952"
                    },
                    {
                        "id": "rs1163701952",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1163701952"
                    }
                ],
                "glycoeffect": [
                    "n-glyco-sequon-loss"
                ],
                "start_pos": 813,
                "end_pos": 813,
                "sequence_org": "N",
                "sequence_mut": "D",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884342",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N813",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs757327674",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757327674"
                    },
                    {
                        "id": "rs757327674",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs757327674"
                    }
                ],
                "glycoeffect": [
                    "n-glyco-sequon-loss"
                ],
                "start_pos": 813,
                "end_pos": 813,
                "sequence_org": "N",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884343",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N813",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1316494416",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1316494416"
                    },
                    {
                        "id": "rs1316494416",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1316494416#frequency_tab"
                    },
                    {
                        "id": "rs1316494416",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1316494416"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 814,
                "end_pos": 814,
                "sequence_org": "E",
                "sequence_mut": "A",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884346",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E814",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1316494416",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1316494416"
                    },
                    {
                        "id": "rs1316494416",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1316494416#frequency_tab"
                    },
                    {
                        "id": "rs1316494416",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1316494416"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 814,
                "end_pos": 814,
                "sequence_org": "E",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884346",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E814",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    },
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 814,
                "end_pos": 814,
                "subjects_tested": "4799",
                "subjects_positive": "2",
                "frequency": "0.0",
                "sequence_org": "E",
                "sequence_mut": "K",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99884345",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "E814",
                "disease": [
                    {
                        "disease_id": "DOID:1324",
                        "recommended_name": {
                            "id": "DOID:1324",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1324",
                            "name": "lung cancer",
                            "description": "A respiratory system cancer that is located_in the lung."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": "A malignant neoplasm involving the lung."
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "cancer of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "Nonsmall cell lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "alveolar cell carcinoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "LNCR1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "LNCR3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "adenocarcinoma of lung, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "LNCR4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "LNCR5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:4765"
                        ],
                        "evidence": [
                            {
                                "id": "1324",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1324"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 815,
                "end_pos": 815,
                "subjects_tested": "2670",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "S",
                "sequence_mut": "T",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99884349",
                "ref_nt": "G",
                "alt_nt": "C",
                "minor_allelic_frequency": "",
                "site_lbl": "S815",
                "disease": [
                    {
                        "disease_id": "DOID:1319",
                        "recommended_name": {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "brain cancer",
                            "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "BT - Brain tumour",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "adult brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "adult malignant brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "brain neoplasm, adult",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "malignant brain tumour",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "malignant primary brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "malignant primary brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "malignant tumor of Brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "malignant tumor of adult brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "neoplasm of brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "primary brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "primary brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "primary malignant neoplasm of brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "tumor of the Brain",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:1659",
                            "DOID:4203",
                            "DOID:368",
                            "DOID:3541",
                            "DOID:4706"
                        ],
                        "evidence": [
                            {
                                "id": "1319",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1319"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1652283067",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1652283067"
                    },
                    {
                        "id": "rs1652283067",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1652283067#frequency_tab"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 816,
                "end_pos": 816,
                "sequence_org": "K",
                "sequence_mut": "E",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99884351",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K816",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            }
        ]
    }
}
