{
    "batchid": 10,
    "recordid": "P35573-1",
    "recordtype": "protein",
    "sections": {
        "snv": [
            {
                "evidence": [
                    {
                        "id": "rs2524499484",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2524499484"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 146,
                "end_pos": 146,
                "sequence_org": "R",
                "sequence_mut": "I",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99862400",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R146",
                "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": "rs1650123088",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1650123088"
                    },
                    {
                        "id": "rs1650123088",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1650123088"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 146,
                "end_pos": 146,
                "sequence_org": "R",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99862401",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R146",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1057517344",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057517344"
                    },
                    {
                        "id": "rs1650122493",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1650122493"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 146,
                "end_pos": 146,
                "sequence_org": "R",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99862400",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R146",
                "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"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1470,
                "end_pos": 1470,
                "subjects_tested": "4799",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "G",
                "sequence_mut": "C",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99916658",
                "ref_nt": "G",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "G1470",
                "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": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    },
                    {
                        "id": "rs377284498",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377284498"
                    },
                    {
                        "id": "rs377284498",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs377284498#frequency_tab"
                    },
                    {
                        "id": "rs377284498",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs377284498"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1470,
                "end_pos": 1470,
                "subjects_tested": "2670",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "G",
                "sequence_mut": "S",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99916658",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "G1470",
                "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",
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs566536762",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs566536762"
                    },
                    {
                        "id": "rs566536762",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs566536762"
                    },
                    {
                        "id": "rs566536762",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs566536762"
                    },
                    {
                        "id": "rs566536762",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs566536762#frequency_tab"
                    },
                    {
                        "id": "rs566536762",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs566536762"
                    },
                    {
                        "id": "rs566536762",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs566536762"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1471,
                "end_pos": 1471,
                "sequence_org": "P",
                "sequence_mut": "L",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916662",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P1471",
                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "somatic",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs566536762",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs566536762"
                    },
                    {
                        "id": "rs566536762",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs566536762"
                    },
                    {
                        "id": "rs566536762",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs566536762"
                    },
                    {
                        "id": "rs566536762",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs566536762#frequency_tab"
                    },
                    {
                        "id": "rs566536762",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs566536762"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1471,
                "end_pos": 1471,
                "sequence_org": "P",
                "sequence_mut": "Q",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916662",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P1471",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1472,
                "end_pos": 1472,
                "subjects_tested": "4799",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "E",
                "sequence_mut": "*",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99916664",
                "ref_nt": "G",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "E1472",
                "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": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    },
                    {
                        "id": "rs902331738",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs902331738"
                    },
                    {
                        "id": "rs902331738",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs902331738#frequency_tab"
                    },
                    {
                        "id": "rs902331738",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs902331738"
                    },
                    {
                        "id": "rs902331738",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs902331738"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 1473,
                "end_pos": 1473,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "T",
                "sequence_mut": "I",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99916668",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "T1473",
                "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": "rs902331738",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs902331738"
                    },
                    {
                        "id": "rs902331738",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs902331738#frequency_tab"
                    },
                    {
                        "id": "rs902331738",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs902331738"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 1473,
                "end_pos": 1473,
                "sequence_org": "T",
                "sequence_mut": "N",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916668",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "T1473",
                "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": "rs2523865849",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2523865849"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 1474,
                "end_pos": 1474,
                "sequence_org": "T",
                "sequence_mut": "I",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916671",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "T1474",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2100876312",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2100876312"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 1474,
                "end_pos": 1474,
                "sequence_org": "T",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916669",
                "ref_nt": "p",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "T1474",
                "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": "rs1286364615",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1286364615"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1475,
                "end_pos": 1475,
                "sequence_org": "A",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916672",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A1475",
                "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": "rs78348923",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78348923"
                    },
                    {
                        "id": "rs78348923",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs78348923"
                    },
                    {
                        "id": "rs78348923",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78348923"
                    },
                    {
                        "id": "rs78348923",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs78348923#frequency_tab"
                    },
                    {
                        "id": "rs78348923",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs78348923"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1477,
                "end_pos": 1477,
                "sequence_org": "T",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916680",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "0.00588697",
                "site_lbl": "T1477",
                "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": "rs549501272",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs549501272"
                    },
                    {
                        "id": "rs549501272",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs549501272"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1478,
                "end_pos": 1478,
                "sequence_org": "I",
                "sequence_mut": "K",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916683",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "0.000196232",
                "site_lbl": "I1478",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs549501272",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs549501272"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1478,
                "end_pos": 1478,
                "sequence_org": "I",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916683",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I1478",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs746000753",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746000753"
                    },
                    {
                        "id": "rs746000753",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746000753"
                    },
                    {
                        "id": "rs746000753",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs746000753#frequency_tab"
                    },
                    {
                        "id": "rs746000753",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs746000753"
                    },
                    {
                        "id": "rs746000753",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs746000753"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1478,
                "end_pos": 1478,
                "sequence_org": "I",
                "sequence_mut": "V",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916682",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I1478",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs770178156",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770178156"
                    },
                    {
                        "id": "rs770178156",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770178156"
                    },
                    {
                        "id": "rs770178156",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs770178156#frequency_tab"
                    },
                    {
                        "id": "rs770178156",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs770178156"
                    },
                    {
                        "id": "rs770178156",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs770178156"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1479,
                "end_pos": 1479,
                "sequence_org": "V",
                "sequence_mut": "A",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916686",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V1479",
                "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",
                    "somatic",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs770178156",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770178156"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1479,
                "end_pos": 1479,
                "sequence_org": "V",
                "sequence_mut": "D",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916686",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V1479",
                "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": "rs1650123395",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1650123395"
                    },
                    {
                        "id": "rs1650123395",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1650123395#frequency_tab"
                    },
                    {
                        "id": "rs1650123395",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1650123395"
                    },
                    {
                        "id": "rs1650123395",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1650123395"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 147,
                "end_pos": 147,
                "subjects_tested": "606",
                "subjects_positive": "1",
                "frequency": "0.2",
                "sequence_org": "L",
                "sequence_mut": "F",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99862402",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "L147",
                "disease": [
                    {
                        "disease_id": "DOID:1781",
                        "recommended_name": {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "thyroid cancer",
                            "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:1781",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1781",
                                "name": "Thyroid gland neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1781",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1781",
                                "name": "malignant neoplasm of thyroid gland",
                                "description": ""
                            },
                            {
                                "id": "DOID:1781",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1781",
                                "name": "malignant tumour of thyroid gland",
                                "description": ""
                            },
                            {
                                "id": "DOID:1781",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1781",
                                "name": "neoplasm of thyroid gland",
                                "description": ""
                            },
                            {
                                "id": "DOID:1781",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1781",
                                "name": "thyroid neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1781",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1781",
                                "name": "thyroid gland cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:0080524",
                            "DOID:0080525",
                            "DOID:3973"
                        ],
                        "evidence": [
                            {
                                "id": "1781",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1781"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1298999791",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1298999791"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 147,
                "end_pos": 147,
                "sequence_org": "L",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99862403_99862404",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L147",
                "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": "",
                        "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": 1480,
                "end_pos": 1480,
                "subjects_tested": "4799",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "L",
                "sequence_mut": "F",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99916690",
                "ref_nt": "G",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "L1480",
                "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": "rs776015923",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776015923"
                    },
                    {
                        "id": "rs776015923",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776015923"
                    },
                    {
                        "id": "rs776015923",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs776015923#frequency_tab"
                    },
                    {
                        "id": "rs776015923",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs776015923"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1480,
                "end_pos": 1480,
                "sequence_org": "L",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916689",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L1480",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs776015923",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776015923"
                    },
                    {
                        "id": "rs776015923",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776015923"
                    },
                    {
                        "id": "rs776015923",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs776015923#frequency_tab"
                    },
                    {
                        "id": "rs776015923",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs776015923"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1480,
                "end_pos": 1480,
                "sequence_org": "L",
                "sequence_mut": "W",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916689",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L1480",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1655143818",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1655143818"
                    },
                    {
                        "id": "rs1655143818",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1655143818"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1481,
                "end_pos": 1481,
                "sequence_org": "V",
                "sequence_mut": "F",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916691",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V1481",
                "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": "rs1442916820",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1442916820"
                    },
                    {
                        "id": "rs1442916820",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1442916820"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1483,
                "end_pos": 1483,
                "sequence_org": "N",
                "sequence_mut": "K",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916699",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N1483",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1655144253",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1655144253"
                    },
                    {
                        "id": "rs1655144253",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1655144253"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1483,
                "end_pos": 1483,
                "sequence_org": "N",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916698",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N1483",
                "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": "rs2100876453",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2100876453"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1483,
                "end_pos": 1483,
                "sequence_org": "N",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916698",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N1483",
                "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": "rs75076115",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs75076115"
                    },
                    {
                        "id": "rs75076115",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs75076115"
                    },
                    {
                        "id": "rs75076115",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs75076115"
                    },
                    {
                        "id": "rs75076115",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs75076115#frequency_tab"
                    },
                    {
                        "id": "rs75076115",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs75076115"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1484,
                "end_pos": 1484,
                "sequence_org": "V",
                "sequence_mut": "F",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916700",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "0.000588697",
                "site_lbl": "V1484",
                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs774708890",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774708890"
                    },
                    {
                        "id": "rs774708890",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774708890"
                    },
                    {
                        "id": "rs774708890",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs774708890#frequency_tab"
                    },
                    {
                        "id": "rs774708890",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs774708890"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1484,
                "end_pos": 1484,
                "sequence_org": "V",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916701",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V1484",
                "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"
                            }
                        ]
                    }
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs75076115",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs75076115"
                    },
                    {
                        "id": "rs75076115",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs75076115"
                    },
                    {
                        "id": "rs75076115",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs75076115"
                    },
                    {
                        "id": "rs75076115",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs75076115#frequency_tab"
                    },
                    {
                        "id": "rs75076115",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs75076115"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1484,
                "end_pos": 1484,
                "sequence_org": "V",
                "sequence_mut": "I",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916700",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "0.000588697",
                "site_lbl": "V1484",
                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1287510327",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1287510327"
                    },
                    {
                        "id": "rs1287510327",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1287510327#frequency_tab"
                    },
                    {
                        "id": "rs1287510327",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1287510327"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1485,
                "end_pos": 1485,
                "sequence_org": "L",
                "sequence_mut": "H",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916704",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L1485",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1287510327",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1287510327"
                    },
                    {
                        "id": "rs1287510327",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1287510327#frequency_tab"
                    },
                    {
                        "id": "rs1287510327",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1287510327"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1485,
                "end_pos": 1485,
                "sequence_org": "L",
                "sequence_mut": "P",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916704",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L1485",
                "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": "rs1655146046",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1655146046"
                    },
                    {
                        "id": "rs1655146046",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1655146046#frequency_tab"
                    },
                    {
                        "id": "rs1655146046",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1655146046"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 1486,
                "end_pos": 1486,
                "sequence_org": "S",
                "sequence_mut": "F",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916707",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S1486",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs113994134",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113994134"
                    },
                    {
                        "id": "9412782",
                        "database": "PubMed",
                        "url": ""
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 1486,
                "end_pos": 1486,
                "sequence_org": "S",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916706",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S1486",
                "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"
                            }
                        ]
                    }
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs12118058",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs12118058"
                    },
                    {
                        "id": "rs12118058",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs12118058"
                    },
                    {
                        "id": "rs12118058",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs12118058#frequency_tab"
                    },
                    {
                        "id": "rs12118058",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs12118058"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1487,
                "end_pos": 1487,
                "sequence_org": "R",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916709",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R1487",
                "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"
                            }
                        ]
                    }
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs12118058",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs12118058"
                    },
                    {
                        "id": "rs12118058",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs12118058"
                    },
                    {
                        "id": "rs12118058",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs12118058#frequency_tab"
                    },
                    {
                        "id": "rs12118058",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs12118058"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1487,
                "end_pos": 1487,
                "sequence_org": "R",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916709",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R1487",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    },
                    {
                        "id": "rs185681971",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs185681971"
                    },
                    {
                        "id": "rs185681971",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs185681971"
                    },
                    {
                        "id": "rs185681971",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs185681971"
                    },
                    {
                        "id": "rs185681971",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs185681971#frequency_tab"
                    },
                    {
                        "id": "rs185681971",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs185681971"
                    },
                    {
                        "id": "rs185681971",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs185681971"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1487,
                "end_pos": 1487,
                "subjects_tested": "3601",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "R",
                "sequence_mut": "Q",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99916710",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "R1487",
                "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"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:5041",
                        "recommended_name": {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "esophageal cancer",
                            "description": "A gastrointestinal system cancer that is located_in the esophagus."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "Ca lower third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "Ca middle third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "esophagus cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant neoplasm of distal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant neoplasm of lower third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant neoplasm of middle third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant neoplasm of proximal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant neoplasm of upper third esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant tumor of Distal Third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant tumor of Proximal Third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant tumor of abdominal esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant tumor of the middle Third of the esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the esophagus."
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "cancer of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "cancer of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal carcinoma, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal squamous cell carcinoma, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophagus cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant esophageal neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant esophageal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant esophageal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant esophagus neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant esophagus tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of the esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of the oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant oesophagus neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant oesophagus tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of the esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of the oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "oesophagus cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Ca lower third esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Ca lower third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Ca middle third esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Ca middle third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of distal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of distal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of lower third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of lower third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of middle third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of middle third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of proximal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of proximal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of upper third esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of upper third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of abdominal esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of distal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of proximal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of the middle third of the esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of abdominal oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of distal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of proximal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of the middle third of the oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Aerodigestive tract cancer, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Escc, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal squamous cell carcinoma, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "gastric cardia adenocarcinoma, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MIM:133239",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133239",
                                "name": "Esophageal cancer",
                                "description": "Esophageal cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "5041",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:5041"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID: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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1655147251",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1655147251"
                    },
                    {
                        "id": "rs1655147251",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1655147251"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1488,
                "end_pos": 1488,
                "sequence_org": "H",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916713",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "H1488",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs374651629",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374651629"
                    },
                    {
                        "id": "rs374651629",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374651629"
                    },
                    {
                        "id": "rs374651629",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs374651629#frequency_tab"
                    },
                    {
                        "id": "rs374651629",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs374651629"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1488,
                "end_pos": 1488,
                "sequence_org": "H",
                "sequence_mut": "Y",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916712",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "H1488",
                "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": "rs1655147620",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1655147620"
                    },
                    {
                        "id": "rs1655147620",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1655147620#frequency_tab"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 1489,
                "end_pos": 1489,
                "sequence_org": "Y",
                "sequence_mut": "H",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916715",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y1489",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1553193523",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1553193523"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 1489,
                "end_pos": 1489,
                "sequence_org": "Y",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916715_99916717",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y1489",
                "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": "rs574307189",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs574307189"
                    },
                    {
                        "id": "rs574307189",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs574307189"
                    },
                    {
                        "id": "rs574307189",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs574307189"
                    },
                    {
                        "id": "rs574307189",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs574307189"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 148,
                "end_pos": 148,
                "sequence_org": "R",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99862405",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R148",
                "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": "rs542885983",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542885983"
                    },
                    {
                        "id": "rs542885983",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs542885983"
                    },
                    {
                        "id": "rs542885983",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542885983"
                    },
                    {
                        "id": "rs542885983",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs542885983#frequency_tab"
                    },
                    {
                        "id": "rs542885983",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs542885983"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 148,
                "end_pos": 148,
                "sequence_org": "R",
                "sequence_mut": "K",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99862406",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "0.000981162",
                "site_lbl": "R148",
                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1057516397",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057516397"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 148,
                "end_pos": 148,
                "sequence_org": "R",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99862405",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R148",
                "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": "rs760188084",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760188084"
                    },
                    {
                        "id": "rs760188084",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760188084"
                    },
                    {
                        "id": "rs760188084",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs760188084#frequency_tab"
                    },
                    {
                        "id": "rs760188084",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs760188084"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1491,
                "end_pos": 1491,
                "sequence_org": "H",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99916722",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "H1491",
                "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": 1491,
                "end_pos": 1491,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "H",
                "sequence_mut": "Y",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99916721",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "H1491",
                "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": "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": 1493,
                "end_pos": 1493,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "E",
                "sequence_mut": "D",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99916729",
                "ref_nt": "G",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "E1493",
                "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": "rs765860232",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765860232"
                    },
                    {
                        "id": "rs765860232",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765860232"
                    },
                    {
                        "id": "rs765860232",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs765860232"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1494,
                "end_pos": 1494,
                "sequence_org": "R",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921534",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R1494",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1305923139",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1305923139"
                    },
                    {
                        "id": "rs1305923139",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1305923139#frequency_tab"
                    },
                    {
                        "id": "rs1305923139",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1305923139"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 1495,
                "end_pos": 1495,
                "sequence_org": "S",
                "sequence_mut": "C",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921536",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S1495",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1305923139",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1305923139"
                    },
                    {
                        "id": "rs1305923139",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1305923139#frequency_tab"
                    },
                    {
                        "id": "rs1305923139",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1305923139"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 1495,
                "end_pos": 1495,
                "sequence_org": "S",
                "sequence_mut": "F",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921536",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S1495",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    },
                    {
                        "id": "rs753348029",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753348029"
                    },
                    {
                        "id": "rs753348029",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753348029"
                    },
                    {
                        "id": "rs753348029",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs753348029"
                    },
                    {
                        "id": "rs753348029",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs753348029"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1496,
                "end_pos": 1496,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "P",
                "sequence_mut": "S",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99921538",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "P1496",
                "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"
                            }
                        ]
                    },
                    {
                        "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": "rs1655510736",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1655510736"
                    },
                    {
                        "id": "rs1655510736",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1655510736"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 1498,
                "end_pos": 1498,
                "sequence_org": "K",
                "sequence_mut": "E",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921544",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K1498",
                "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": "rs1655510933",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1655510933"
                    },
                    {
                        "id": "rs1655510933",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1655510933#frequency_tab"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1499,
                "end_pos": 1499,
                "sequence_org": "G",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921547",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "G1499",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs775949605",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775949605"
                    },
                    {
                        "id": "rs775949605",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775949605"
                    },
                    {
                        "id": "rs775949605",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs775949605"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 149,
                "end_pos": 149,
                "sequence_org": "V",
                "sequence_mut": "A",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99862409",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V149",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 14,
                "end_pos": 14,
                "subjects_tested": "1704",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "E",
                "sequence_mut": "G",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99851083",
                "ref_nt": "A",
                "alt_nt": "G",
                "minor_allelic_frequency": "",
                "site_lbl": "E14",
                "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": "rs749411087",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749411087"
                    },
                    {
                        "id": "rs749411087",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749411087"
                    },
                    {
                        "id": "rs749411087",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs749411087"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 14,
                "end_pos": 14,
                "sequence_org": "E",
                "sequence_mut": "K",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99851082",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E14",
                "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": "rs1258050336",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1258050336"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1501,
                "end_pos": 1501,
                "sequence_org": "P",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921552",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P1501",
                "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": "rs1064795728",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1064795728"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1502,
                "end_pos": 1502,
                "sequence_org": "E",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921558_99921562",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E1502",
                "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": "rs1260961188",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1260961188"
                    },
                    {
                        "id": "rs1260961188",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1260961188"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1503,
                "end_pos": 1503,
                "sequence_org": "L",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921559",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L1503",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1460834864",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1460834864"
                    },
                    {
                        "id": "rs1460834864",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1460834864"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 1504,
                "end_pos": 1504,
                "sequence_org": "T",
                "sequence_mut": "N",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921563",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "T1504",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs765306655",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765306655"
                    },
                    {
                        "id": "rs765306655",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765306655"
                    },
                    {
                        "id": "rs765306655",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs765306655#frequency_tab"
                    },
                    {
                        "id": "rs765306655",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs765306655"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1505,
                "end_pos": 1505,
                "sequence_org": "N",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921566",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N1505",
                "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": "rs2100901643",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2100901643"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1505,
                "end_pos": 1505,
                "sequence_org": "N",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921566",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N1505",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1012058155",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1012058155"
                    },
                    {
                        "id": "rs1012058155",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1012058155#frequency_tab"
                    },
                    {
                        "id": "rs1012058155",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1012058155"
                    }
                ],
                "glycoeffect": [
                    "n-glyco-sequon-gain"
                ],
                "start_pos": 1507,
                "end_pos": 1507,
                "sequence_org": "N",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921572",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N1507",
                "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": [],
                "start_pos": 1507,
                "end_pos": 1507,
                "subjects_tested": "1906",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "N",
                "sequence_mut": "Y",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99921571",
                "ref_nt": "A",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "N1507",
                "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": "rs1281888270",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1281888270"
                    },
                    {
                        "id": "rs1281888270",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1281888270#frequency_tab"
                    },
                    {
                        "id": "rs1281888270",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1281888270"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1508,
                "end_pos": 1508,
                "sequence_org": "A",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921575",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A1508",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2100901699",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2100901699"
                    },
                    {
                        "id": "rs2100901699",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2100901699"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1508,
                "end_pos": 1508,
                "sequence_org": "A",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921574",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A1508",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    },
                    {
                        "id": "rs1281888270",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1281888270"
                    },
                    {
                        "id": "rs1281888270",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1281888270#frequency_tab"
                    },
                    {
                        "id": "rs1281888270",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1281888270"
                    },
                    {
                        "id": "rs1281888270",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1281888270"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1508,
                "end_pos": 1508,
                "subjects_tested": "1704",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "A",
                "sequence_mut": "V",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99921575",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "A1508",
                "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": "rs1480850606",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1480850606"
                    },
                    {
                        "id": "rs1480850606",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1480850606#frequency_tab"
                    },
                    {
                        "id": "rs1480850606",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1480850606"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1509,
                "end_pos": 1509,
                "sequence_org": "Q",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921577",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q1509",
                "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": "rs373624039",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373624039"
                    },
                    {
                        "id": "rs373624039",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs373624039#frequency_tab"
                    },
                    {
                        "id": "rs373624039",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs373624039"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1509,
                "end_pos": 1509,
                "sequence_org": "Q",
                "sequence_mut": "H",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921579",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q1509",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2523916504",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2523916504"
                    },
                    {
                        "id": "rs1480850606",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1480850606"
                    },
                    {
                        "id": "rs1480850606",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1480850606#frequency_tab"
                    },
                    {
                        "id": "rs1480850606",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1480850606"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1509,
                "end_pos": 1509,
                "sequence_org": "Q",
                "sequence_mut": "K",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921576_99921577delin",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q1509",
                "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": "rs1175546784",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1175546784"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1509,
                "end_pos": 1509,
                "sequence_org": "Q",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921577",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q1509",
                "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": "rs387906244",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs387906244"
                    },
                    {
                        "id": "rs387906244",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs387906244"
                    },
                    {
                        "id": "rs387906244",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs387906244#frequency_tab"
                    },
                    {
                        "id": "rs387906244",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs387906244"
                    },
                    {
                        "id": "8990006",
                        "database": "PubMed",
                        "url": ""
                    },
                    {
                        "id": "rs1655514557",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1655514557"
                    },
                    {
                        "id": "rs1655514557",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1655514557#frequency_tab"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 1510,
                "end_pos": 1510,
                "sequence_org": "Y",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921581",
                "ref_nt": "p",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y1510",
                "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"
                            }
                        ]
                    }
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1655514120",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1655514120"
                    },
                    {
                        "id": "rs1655514120",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1655514120#frequency_tab"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 1510,
                "end_pos": 1510,
                "sequence_org": "Y",
                "sequence_mut": "C",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921581",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y1510",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2100901856",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2100901856"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1511,
                "end_pos": 1511,
                "sequence_org": "C",
                "sequence_mut": "F",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921584",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "C1511",
                "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": "rs2100901856",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2100901856"
                    },
                    {
                        "id": "rs2100901856",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2100901856"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1511,
                "end_pos": 1511,
                "sequence_org": "C",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921584",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "C1511",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1655514750",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1655514750"
                    },
                    {
                        "id": "rs1655514750",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1655514750"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1512,
                "end_pos": 1512,
                "sequence_org": "P",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921586",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P1512",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs752519483",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752519483"
                    },
                    {
                        "id": "rs752519483",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752519483"
                    },
                    {
                        "id": "rs752519483",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs752519483#frequency_tab"
                    },
                    {
                        "id": "rs752519483",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs752519483"
                    },
                    {
                        "id": "rs1469582728",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1469582728"
                    },
                    {
                        "id": "rs1469582728",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1469582728"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1513,
                "end_pos": 1513,
                "sequence_org": "F",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921591",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "F1513",
                "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": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 1514,
                "end_pos": 1514,
                "sequence_org": "S",
                "sequence_mut": "C",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000001.11",
                "chr_pos": "99921592",
                "ref_nt": "A",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "S1514",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1356772401",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1356772401"
                    },
                    {
                        "id": "rs1356772401",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1356772401"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 1514,
                "end_pos": 1514,
                "sequence_org": "S",
                "sequence_mut": "N",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921593",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S1514",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs367764339",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367764339"
                    },
                    {
                        "id": "rs367764339",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367764339"
                    },
                    {
                        "id": "rs367764339",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs367764339"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 1514,
                "end_pos": 1514,
                "sequence_org": "S",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921594",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S1514",
                "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": "rs1297041479",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1297041479"
                    },
                    {
                        "id": "rs1297041479",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1297041479"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1515,
                "end_pos": 1515,
                "sequence_org": "C",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921596",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "C1515",
                "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": 1516,
                "end_pos": 1516,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "E",
                "sequence_mut": "*",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99921598",
                "ref_nt": "G",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "E1516",
                "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": "rs1655516822",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1655516822"
                    },
                    {
                        "id": "rs1655516822",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1655516822"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1518,
                "end_pos": 1518,
                "sequence_org": "Q",
                "sequence_mut": "K",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921604",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q1518",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1519,
                "end_pos": 1519,
                "subjects_tested": "1704",
                "subjects_positive": "2",
                "frequency": "0.1",
                "sequence_org": "A",
                "sequence_mut": "G",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99921608",
                "ref_nt": "C",
                "alt_nt": "G",
                "minor_allelic_frequency": "",
                "site_lbl": "A1519",
                "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": 1519,
                "end_pos": 1519,
                "subjects_tested": "1906",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "A",
                "sequence_mut": "S",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99921607",
                "ref_nt": "G",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "A1519",
                "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"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs777741602",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777741602"
                    },
                    {
                        "id": "rs777741602",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777741602"
                    },
                    {
                        "id": "rs777741602",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs777741602#frequency_tab"
                    },
                    {
                        "id": "rs777741602",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs777741602"
                    },
                    {
                        "id": "rs777741602",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs777741602"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1519,
                "end_pos": 1519,
                "sequence_org": "A",
                "sequence_mut": "V",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921608",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A1519",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    },
                    {
                        "id": "rs2100902013",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2100902013"
                    },
                    {
                        "id": "rs2100902013",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2100902013"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1520,
                "end_pos": 1520,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "W",
                "sequence_mut": "*",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99921612",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "W1520",
                "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",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1655517426",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1655517426"
                    },
                    {
                        "id": "rs1655517426",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1655517426#frequency_tab"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1520,
                "end_pos": 1520,
                "sequence_org": "W",
                "sequence_mut": "C",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921612",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "W1520",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 1521,
                "end_pos": 1521,
                "subjects_tested": "1704",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "S",
                "sequence_mut": "A",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99921613",
                "ref_nt": "T",
                "alt_nt": "G",
                "minor_allelic_frequency": "",
                "site_lbl": "S1521",
                "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": "rs2523917477",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2523917477"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 1521,
                "end_pos": 1521,
                "sequence_org": "S",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921614",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S1521",
                "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": "rs1406341617",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1406341617"
                    },
                    {
                        "id": "rs1406341617",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1406341617"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 1521,
                "end_pos": 1521,
                "sequence_org": "S",
                "sequence_mut": "P",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921613",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S1521",
                "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": "rs556986901",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs556986901"
                    },
                    {
                        "id": "rs556986901",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs556986901"
                    },
                    {
                        "id": "rs556986901",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs556986901"
                    },
                    {
                        "id": "rs556986901",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs556986901#frequency_tab"
                    },
                    {
                        "id": "rs556986901",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs556986901"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1522,
                "end_pos": 1522,
                "sequence_org": "I",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921616",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "0.000196232",
                "site_lbl": "I1522",
                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1655518004",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1655518004"
                    },
                    {
                        "id": "rs1655518004",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1655518004#frequency_tab"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1523,
                "end_pos": 1523,
                "sequence_org": "A",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921619",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A1523",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1655518207",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1655518207"
                    },
                    {
                        "id": "rs1655518207",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1655518207"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1523,
                "end_pos": 1523,
                "sequence_org": "A",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921620",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A1523",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs995580660",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs995580660"
                    },
                    {
                        "id": "rs995580660",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs995580660"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 1524,
                "end_pos": 1524,
                "sequence_org": "T",
                "sequence_mut": "A",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99921622",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "T1524",
                "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"
                ]
            }
        ]
    }
}
